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PubMed2004

The diversity of Listeria monocytogenes strains from 10 Icelandic sheep farms.

AIMS: The purpose of this study was to examine the diversity of Listeria monocytogenes strains from healthy sheep, winter feed and environment of sheep farms in Iceland. METHODS AND RESULTS: A total of 104 L. monocytogenes isolates from animals, winter feed and environment on 10 Icelandic sheep farms were compared by serotyping, ribotyping, and pulsed-field gel electrophoresis with ApaI and AscI. The isolates were divided into 24 genotypes, all identified as serovars 1/2a, 1/2b, or 4b. Nine genotypes were detected on more than one farm. On three of the farms there seemed to be a dominant strain of L. monocytogenes. Isolates from incidents of listeriosis in animals occurring on two of the farms belonged to the genotype most commonly found on the particular farm. Nine of the 24 genotypes found on the sheep farms have been associated with disease in animals and/or humans elsewhere in Iceland. CONCLUSIONS: Certain strains of L. monocytogenes seem to be widely distributed on Icelandic sheep farms. On some farms there appears to be a dominant strain of L. monocytogenes. Incidents of listeriosis in animals may tend to be associated with strains commonly found on the farm. SIGNIFICANCE AND IMPACT OF THE STUDY: This study demonstrates the diversity of L. monocytogenes present in healthy sheep and their environment.

Animal Feed↗
PubMed1991

High incidence of multinodular toxic goitre in the elderly population in a low iodine intake area vs. high incidence of Graves' disease in the young in a high iodine intake area: comparative surveys of thyrotoxicosis epidemiology in East-Jutland Denmark and Iceland.

Little is known about the optimum level of iodine intake for iodine supplementation programmes, or about the effects of the high levels of iodine intake that are found in some countries. We compared the incidence of different types of hyperthyroidism in East-Jutland Denmark with a low average iodine intake but no endemic goitre, and the incidence in Iceland with a relatively high iodine intake. Hyperthyroidism was more common in East-Jutland than in Iceland, due to a much higher incidence of multinodular toxic goitre and also of single toxic adenoma. Most of the patients with these diseases were over 50 years of age. By contrast, the incidence of Graves' disease was significantly higher in Iceland than in East-Jutland. This difference was most marked in the younger age groups, in which hyperthyroidism was more than twice as common in Iceland as in East-Jutland. These results demonstrate that even mild iodine deficiency has a significant effect on population health, since it leads to a high incidence of autonomous thyroid nodules with hyperthyroidism in the elderly population. However, population iodine intake probably should not exceed a level much higher than that necessary to avoid iodine deficiency, otherwise Graves' disease may be induced in the young population.

Adolescent↗
PubMed1997

Association of BsmI vitamin-D receptor gene polymorphism with combined bone mass in spine and proximal femur in Icelandic women.

OBJECTIVE: To evaluate whether there is an association between BsmI-vitamin-D receptor (VDR) gene polymorphism and combined bone mass in the spine and proximal femur in a group of adult Icelandic women with high and low bone mineral density (BMD). DESIGN: Comparison of distribution of VDR genotypes (BB, Bb and bb) and allele frequency (B and b) in two groups of women: a group with 'strong bones' with high BMD in both the spine and proximal femur (> 1 standard deviation [SD]) above the age-matched mean (n = 35) and a group with 'weak bones' with BMD > 1.5 SD below the age-matched mean at both sites using dual energy X-ray absorptiometry. SETTING: Iceland, a population with a mean calcium intake > 1000 mg day-1. The calcium intake in the study group was however not evaluated. SUBJECTS: Eighty-three Icelandic women, aged 22-65, free of diseases affecting bone and not taking drugs affecting calcium or bone metabolism, recruited from women undergoing bone densitometry at the Reykjavik Hospital. MAIN OUTCOME MEASURES: Frequency of VDR genotypes and alleles in the two groups. RESULTS: The distribution of VDR genotypes was significantly different in the two groups (P < 0.01); the b allele frequency was 70% in the group with high BMD compared to 48.5% in the group with low BMD. CONCLUSIONS: In this selected group of adult Icelandic women the b allele in the vitamin-D receptor gene seems to be associated with high bone mass in the spine and proximal femur.

Adult↗
PubMed2004

Religion, modernity and foreign nurses in Iceland 1896-1930.

This paper describes the influence of foreign nurses upon the development of modern healthcare services and the nursing profession in Iceland in the first three decades of the twentieth century. It represents a case study of how new ideas, traditions and practices migrated between countries and cultures in the twentieth century. Icelandic society was, at that time, still premodern in many ways. Healthcare institutions were almost nonexistent and the means of production were undeveloped. It was into this context that the idea of nursing as a professional activity was introduced. Groups of nurses, the Catholic Sisters of St Joseph of Chambéry and secular nurses, mainly from Denmark, came to the country to organize and provide healthcare services, of which nursing was of central importance. These groups were diasporas, in that they brought traditions and practices from other cultures. The Sisters of St Joseph built, owned and ran the first modern hospital in the country. The Danish nurses introduced nursing as a specialized field of work, in leprosy and tuberculosis nursing and by initiating public health nursing services. They were instrumental in promoting education as an important condition to becoming a nurse, and the development of an Icelandic nursing profession. These nurses were generally respected by the Icelandic people for their contributions and were received with interest and appreciation. The healthcare services introduced by these different groups of nurses reflected modern ways of living and a commitment to professionalism, which involved providing assistance to patients based on the best knowledge available and a philosophy of respect and care.

Catholicism↗
PubMed2005

Unchanged incidence of diabetic nephropathy in Type 1 diabetes: a nation-wide study in Iceland.

AIMS: Diabetic nephropathy is an uncommon cause of end-stage renal disease in Iceland in contrast to most industrialized countries. The aim of this study was to examine the incidence of diabetic nephropathy in Iceland. METHODS: All patients diagnosed with Type 1 diabetes in Iceland before 1992 were studied retrospectively. Patients diagnosed before age 30, who were insulin dependent from the onset, were defined as having Type 1 diabetes. Diabetic nephropathy was defined as persistent proteinuria measured with a dipstick test (Albustix) on three consecutive clinic visits at least 2 months apart. Patients were followed to the end of year 1998, to their last recorded outpatient visit, or until death. The cumulative incidence of diabetic nephropathy was calculated with the Kaplan-Meier method and presented according to the duration of diabetes divided into 5-year intervals. RESULTS: A total of 343 patients with Type 1 diabetes were identified. The mean follow-up period was 20.2 +/- 11.4 (mean +/- sd) years. Only 9.3% of patients were lost to follow-up. Sixty-five patients developed diabetic nephropathy. The cumulative incidence was 22.6% at 20 years and levelled off at 40.3% after approximately 35 years of diabetes duration. No significant changes in cumulative incidence were observed over time. Mean glycated haemoglobin was 8.4% in patients with proteinuria and 7.8% in a group of patients without proteinuria that was matched for age, gender and duration of diabetes (P = 0.04). CONCLUSIONS: The cumulative incidence of diabetic nephropathy in Iceland is comparable with previously reported cumulative incidence rates and has remained unchanged. Glycaemic control was significantly better in patients without proteinuria.

Adolescent↗
PubMed2003

American and Icelandic parents' perceptions of the health status of their young children with chronic asthma.

PURPOSE: To identify factors that influence American and Icelandic parents' health perceptions among families of infants or young children with asthma. DESIGN: A cross-sectional research design of 76 American families and 103 Icelandic families. Data were collected mainly in the Midwest of the United States (US) and in Iceland from August 1996 through January 2000. METHOD: Parents in these two countries who had children aged 6 or younger with chronic asthma completed questionnaires regarding family demands, caregiving demands, family hardiness, sense of coherence, and health perceptions. Descriptive statistics, chi-square tests and t tests were compiled. Multiple regression analysis was used to test path models and for mediation. FINDINGS: American parents differed from their Icelandic counterparts in family hardiness. In both countries, significant differences were found in caregiving demands and health perceptions between mothers and fathers. Illness severity and caregiving demands affected health perceptions of both mothers and fathers. Sense of coherence mediated the relationship between family demands and parents' perceptions for both parents. For mothers only, family hardiness mediated the relationship between family demands and health perceptions. CONCLUSIONS: The Resiliency Model of Family Stress, Adjustment, and Adaptation was useful for building knowledge on parents' health perceptions in two Western cultures for families of young children with asthma. Interventions emphasizing family and individual resiliency and strengths have the potential to affect parents' views of their children's health.

Adaptation, Psychological↗
PubMed2004

Antimitochondrial antibodies and reactivity to N. aromaticivorans proteins in Icelandic patients with primary biliary cirrhosis and their relatives.

OBJECTIVES: Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic disease of unknown etiology characterized by serum antimitochondrial antibodies (AMA) directed against a functionally related family of mitochondrial enzymes. We recently suggested that N. aromaticivorans might be the trigger of autoimmunity in PBC. No data are available on the specificity and crossreactivity of AMA in a genetically homogenous group of patients, such as the Icelandic population. METHODS: To address these issues and to confirm previous findings in a unique population, we obtained sera from 14 PBC patients and 85 first-degree relatives, all of Icelandic descent. We analyzed such sera for AMA specificity using recombinant mitochondrial antigens and for reactivity against N. aromaticivorans proteins. RESULTS: Thirteen of the 14 Icelandic patients with PBC (93%) were found AMA positive. We found that 5/13 AMA positive sera (38%) reacted against PDC-E2 only; 5/13 (or 38%) reacted against BCOADC-E2; and 2/13 (15%) reacted against all three antigens. There was no reactivity against OGDC-E2. Reactivities of patients' sera against N. aromaticivorans were consistent with the AMA status. One serum among the 85 first-degree relatives (1.2%) was found to be AMA-positive, as well as reactive against N. aromaticivorans. CONCLUSIONS: Interestingly, despite the homogenous genetic background, the group of Icelandic patients with PBC was heterogeneous in their AMA reactive patterns and also reacted with N. aromaticivorans proteins.

Antigen-Antibody Reactions↗
PubMed2005

Can the prevalence of open-angle glaucoma be estimated from a retrospective clinical material? A study on the west coast of Iceland.

PURPOSE: To explore the possibility of estimating the prevalence of open-angle glaucoma (OAG) on the west coast of Iceland using a clinical retrospective material, and to compare that estimate with the results from a recent prospective Icelandic study. METHODS: The compulsory ophthalmological examination for the prescription of eye glasses in combination with information obtained from Statistics Iceland were used to establish the prevalence of glaucoma in Akranes and to estimate the minimum prevalence for the greater west coast area. A recent prospective study from Iceland was used as reference. RESULTS: In all, 79% of 1443 Akranes inhabitants aged 50 years or more had visited the eye clinic at least once between 1996 and 2001. The prevalence of OAG was 4.8% (95% CI 3.6-6.1). The minimum prevalence for the west coast was 3.8% (95% CI 3.2-4.4). The prevalence increased with age (p < 0.001). The overall prevalence was similar to that of recently published prospective data but the prevalence of normal tension glaucoma (NTG) was lower. CONCLUSION: The results from the two studies are similar in many respects, which indicates that retrospective data may supply meaningful information on glaucoma prevalence. Important sources of error are the selection and attendance of patients, screening methods and diagnostic criteria. If routine examination does not include fundus photography and/or perimetry, the prevalence of NTG will be underestimated.

Aged↗
PubMed1986

The prevalence of open-angle glaucoma in Iceland.

A compilation of all prescriptions issued for glaucoma medication in Iceland for a 6 months period, together with hospital records of all patients operated on for primary open-angle glaucoma but not on glaucoma medication, were analysed for the prevalence and distribution of glaucoma in Iceland. The glaucoma population consisted of 1916 individuals (991 males and 925 females), amounting to an overall prevalence of 8.3 per thousand population. About 80% of the patients were on glaucoma medication and the remaining had been operated on but had not used drugs. Only 2.6% of the glaucoma population was under 50 years of age. The overall prevalence among those aged 50 and older was 35.3 per 1000, all having primary open angle glaucoma (subsuming glaucoma with pseudoexfoliation of the lens capsule). The prevalence increased with age from 5.7 per 1000 at age 50-59, to 107.5 at age 80 and older. Rates for males were significantly higher than rates for females in all age groups. The rates were highest in regions where ophthalmologists visit health centers regularly. Assuming that the open-angle glaucoma patients in Iceland as a whole have a similar eye status to the patients attending the University Outpatient Glaucoma Clinic, the overall prevalence of GVFD (glaucoma visual field defects) in the population aged 50 and older is 19.1 per thousand. The age specific prevalence of GVFD in Iceland is therefore consistent with results of prevalence studies in neighbouring countries.

Adult↗
PubMed1991

An epidemiological study of summer eczema in Icelandic horses in Norway.

A survey of summer eczema was conducted on 391 Icelandic horses in Norway. The study showed a prevalence of summer eczema of 17.6 per cent in the horses investigated. Icelandic horses born in Norway where shown to be less affected with summer eczema than imported horses, 8.2 per cent and 26.9 per cent respectively (P less than 0.001). There was no difference in the prevalence of summer eczema relative to gender or colour of the horse. The number of horses affected with summer eczema rose with increasing age and the number of years which had elapsed since importation. On average, Icelandic horses born in Norway developed summer eczema at the age of 5.3 years. The onset of disease for imported horses was, on average, 4.1 years after importation. The study also revealed that a significantly greater number of horses imported from Iceland to Norway during the period October to April, which has a minimal or low activity of insects (32.3 per cent), had developed summer eczema, compared with horses imported during the period May to September, when insects are more active (16.7 per cent), (P = 0.044). Horses with summer eczema were shown to be significantly more affected by respiratory disease than non-affected horses (P = 0.0086). The most common sites and clinical signs of summer eczema are also described.

Age Factors↗
PubMed1989

A study of familial hypercholesterolaemia in Iceland using RFLPs.

We have studied 17 unrelated families from Iceland who have familial hypercholesterolaemia (FH), using three different restriction fragment length polymorphisms (RFLPs) of the LDL receptor gene. In one family FH was caused by a 2 kb deletion in the LDL receptor gene in the region of exons 9 to 10. The PvuII (intron 15), NcoI (exon 18), and ApaLI (intron 15) RFLPs were used to determine the haplotypes associated with the defective LDL receptor gene in Iceland. Genotypes were determined in 77 subjects from these 17 families, both FH and non-FH. A rare new NcoI RFLP was detected in three subjects. Among the patients, at least four different haplotypes were observed indicating that FH in Iceland is caused by at least four different mutations and is a heterogeneous disease, even in the small, geographically isolated population of Iceland.

Adult↗
PubMed2006

Lower consumption of cow milk protein A1 beta-casein at 2 years of age, rather than consumption among 11- to 14-year-old adolescents, may explain the lower incidence of type 1 diabetes in Iceland than in Scandinavia.

AIM: To compare the consumption of the cow milk proteins A1 and B beta-casein among children and adolescents in Iceland and Scandinavia (Norway, Denmark, Sweden and Finland) as this might explain the lower incidence of type 1 diabetes (per 100,000/year, 0-14 years) in Iceland. METHODS: The consumption of A1 beta-casein in each country among 2- and 11- to 14-year-old children was calculated from results on food intake and on cow milk protein concentration. The consumption values were then compared and evaluated against the incidence of type 1 diabetes. RESULTS: There was a significant difference between the consumption of A1 (p = 0.034) as well as the sum of A1 and B (p = 0.021) beta-casein in Iceland and Scandinavia for 2-year-old children. In the same age group, consumption of A1 beta-casein correlated with the incidence of type 1 diabetes in the countries (r = 0.9; p = 0.037). No significant difference in consumption of A1 or the sum of A1 and B beta-casein was found for 11- to 14-year-old adolescents. CONCLUSION: This study supports that lower consumption of A1 beta-casein might be related to the lower incidence of type 1 diabetes in Iceland than in Scandinavia. Additionally it indicates that consumption in young childhood might be of more importance for the development of the disease incidence than consumption in adolescence.

Adolescent↗
PubMed2000

Lack of seasonal mood change in the Icelandic population: results of a cross-sectional study.

OBJECTIVE: The prevalence of seasonal affective disorder-as measured by the Seasonal Pattern Assessment Questionnaire-has been found to be unexpectedly low among Icelanders. The aim of this cross-sectional study was to measure seasonal variations in the prevalence of anxiety and depression among Icelanders assessed with the Hospital Anxiety and Depression Questionnaire. METHOD: Four 1, 000-person cohorts, age 20-70 years, selected at random from the Icelandic National Register, were sent the Hospital Anxiety and Depression Scale by mail in either January, April, July, or October. Only responses from the 4-week period after each mailing were considered in the subsequent analysis. RESULTS: The mean anxiety and depression scores in winter were not higher than those in summer for either sex. There was no significant difference between winter and summer in rates of actual or borderline cases of anxiety or depression or for the two categories combined. CONCLUSIONS: This lack of seasonality in anxiety and depression is in sharp contrast to findings from similar cross-sectional studies and may reflect the low propensity for seasonal affective disorder that has been described in the Icelandic population.

Adult↗
PubMed1994

Pharmacy in Iceland.

OBJECTIVE: To summarize the practice of pharmacy in Iceland. DATA SOURCES: Human resources were the primary sources of data for this publication. Personal observation by Cleary is the basis of this publication. DATA EXTRACTION AND SYNTHESIS: Data on areas related to Icelandic history, practice of pharmacy, Icelandic health system, and the European Economic Community and Education were obtained through interviews. Information is presented to give an appreciation of pharmacy practice in a Nordic country. CONCLUSIONS: Pharmacy education and practice is progressive and flourishing in Iceland's National Health Service. Clinical pharmacy services are in their infancy; however, the potential for growth is immense. The Fulbright experience was educational and beneficial for all parties involved.

Education, Pharmacy↗
PubMed2006

The use of implantable cardioverter defibrillators in Iceland: a retrospective population based study.

BACKGROUND: Indications for implantable cardioverter defibrillator (ICD) implantation have expanded considerably in recent years, resulting in steadily growing numbers of ICD recipients worldwide. The aim of this study was to review the overall experience with ICDs in Iceland. METHODS: This was a retrospective single centre study set at the University Hospital in Iceland. Data on all ICD implantations in Iceland from the first implantation in 1992 till the end of 2002 was reviewed. RESULTS: Sixty-two patients (71% male) received an ICD during this period. There was an increase in the number of implants by year and the number of new implants in 2001 and 2002 amounted to 56 and 38 per million, respectively. The mean age at implantation was 58 (+/-14) years. Forty patients (65%) had coronary artery disease. The most common indications for ICD implantation were cardiac arrest, 32 (52%) and another 26 (42%) had experienced ventricular tachycardia without cardiac arrest. The most common adverse event was inappropriate shocks. Twenty-eight patients (45%) received therapy from their ICDs, with the majority receiving appropriate therapy. Of the thirteen patients deceased before or during the study period, no case of sudden arrhythmic death was observed. CONCLUSION: This study shows that the experience with ICDs in Iceland is in most respects similar to other Western countries.

Adolescent↗
PubMed2025

Population stratification in Northern shrimp (Pandalus borealis) off Iceland evident from RADseq analysis.

The northern shrimp Pandalus borealis (ice. St&#xf3;ri kampalampi) is a North Atlantic crustacean of significant commercial interest which has been harvested consistently in Icelandic waters since 1936. In Icelandic waters, the length at which this protandrous species transitions from male to female differs between the inshore and offshore populations, suggesting a biologically meaningful stratification which may or may not be plastic. Using reduced representative genomes assembled from RADseq data, sampled from 96 individuals collected at two time points (2018 and 2021), we compare the level of genetic structure across a gradient extending out of Skj&#xe1;lfandi bay, north Iceland. These data are compared to samples from a far offshore site, some 65&#xa0;km out from the bay, as well as another inshore fjord in Arnarfj&#xf6;r&#xf0;ur, in northwestern Iceland. Since 1999, no harvesting of inshore populations of P. borealis in Skj&#xe1;lfandi has been allowed due to stock decline, but harvesting of offshore stocks has continued. Uncertainty surrounding the extent of structure between the in- and offshore aggregations has remained. Here we report distinct genetic structure defining the inshore and offshore populations of northern shrimp, but find significant admixture between the two. Most importantly, we see that genetically inshore populations of northern shrimp extend far outside the harvest boundaries of inshore shrimp, and offshore individuals may exhibit punctuated migration into the inshore areas.

Animals↗
PubMed2003

Risk of malignancy in an unselected cohort of Icelandic patients with systemic lupus erythematosus.

In the present literature there is still controversy as to whether patients with systemic lupus erythematosus (SLE) are at increased risk of developing malignant diseases. In recent years a number of epidemiological studies have been conducted and some have suggested an association between SLE and malignant diseases while other studies have not. The objective of this study was to investigate this relationship in an unselected cohort of Icelandic patients with SLE. All patients diagnosed with SLE registered in the Icelandic SLE database were compared to the Icelandic cancer registry. For completeness, hospital charts and outpatient notes were also reviewed. The study period was from 1957 to the end of 2001. The O/E (observed/expected ratio), CI and P-value were calculated for total number of malignancies as well as individual malignancy types. Of 238 patients diagnosed with SLE (213 women and 25 men) 39 malignancies were diagnosed in 36 patients; 32 women and four men. Of the 36 patients, 27 were diagnosed subsequently with SLE and malignant disease. The mean age at diagnosis of SLE was 43.2 years (range 10-81) and at time of diagnosis of malignancy 62.7 years (range 43-86). The O/R for the whole study population was 1.38 (CI 0.89-1.87, P = 0.063), 1.45 for the women (CI 0.91-1.99, P = 0.051) and 1.03 for the men (CI 0.22-2.66, P = 0.560). The O/R for the most frequent malignancies diagnosed subsequently to SLE was 6.43 for squamous cell skin cancer (CI 1.31-18.5, P = 0.012), 5.48 for lymphoma (CI 0.64-19.6, P = 0.052), 2.46 for uterine cancer (CI 0.29-8.78, P = 0.196), 2.0 for ovarian cancer (CI 0.23-7.14, P = 0.264), 1.72 for lung cancer (CI 0.36-4.95, P = 0.254) and 1.6 for breast cancer (CI 0.65-3.23, P = 0.154). The total number of patient-years at risk was 2774 years. The results from this study on an unselected cohort of Icelandic SLE patients do not suggest an overall association between SLE and malignancy. Squamous cell skin cancer was the only individual cancer type that was statistically increased in the population and the numbers for lymphoma were borderline statistically significant.

Adolescent↗
PubMed2006

The BARD1 Cys557Ser variant and breast cancer risk in Iceland.

BACKGROUND: Most, if not all, of the cellular functions of the BRCA1 protein are mediated through heterodimeric complexes composed of BRCA1 and a related protein, BARD1. Some breast-cancer-associated BRCA1 missense mutations disrupt the function of the BRCA1/BARD1 complex. It is therefore pertinent to determine whether variants of BARD1 confer susceptibility to breast cancer. Recently, a missense BARD1 variant, Cys557Ser, was reported to be at increased frequencies in breast cancer families. We investigated the role of the BARD1 Cys557Ser variant in a population-based cohort of 1,090 Icelandic patients with invasive breast cancer and 703 controls. We then used a computerized genealogy of the Icelandic population to study the relationships between the Cys557Ser variant and familial clustering of breast cancer. METHODS AND FINDINGS: The Cys557Ser allele was present at a frequency of 0.028 in patients with invasive breast cancer and 0.016 in controls (odds ratio [OR] = 1.82, 95% confidence interval [CI] 1.11-3.01, p = 0.014). The alleleic frequency was 0.037 in a high-predisposition group of cases defined by having a family history of breast cancer, early onset of breast cancer, or multiple primary breast cancers (OR = 2.41, 95% CI 1.22-4.75, p = 0.015). Carriers of the common Icelandic BRCA2 999del5 mutation were found to have their risk of breast cancer further increased if they also carried the BARD1 variant: the frequency of the BARD1 variant allele was 0.047 (OR = 3.11, 95% CI 1.16-8.40, p = 0.046) in 999del5 carriers with breast cancer. This suggests that the lifetime probability of a BARD1 Cys557Ser/BRCA2 999del5 double carrier developing breast cancer could approach certainty. Cys557Ser carriers, with or without the BRCA2 mutation, had an increased risk of subsequent primary breast tumors after the first breast cancer diagnosis compared to non-carriers. Lobular and medullary breast carcinomas were overrepresented amongst Cys557Ser carriers. We found that an excess of ancestors of contemporary carriers lived in a single county in the southeast of Iceland and that all carriers shared a SNP haplotype, which is suggestive of a founder event. Cys557Ser was found on the same SNP haplotype background in the HapMap Project CEPH sample of Utah residents. CONCLUSIONS: Our findings suggest that BARD1 Cys557Ser is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk extends to carriers of the BRCA2 999del5 mutation.

Adult↗