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PubMed1989

The prevention and management of autosomal recessive conditions. Main example: alpha 1-antitrypsin deficiency.

In populations in which a particular autosomal recessive disorder is treatable and relatively common, and for which there is a simple diagnostic test, newborns can be screened and treated. For some disorders, such as alpha 1-AT, young people can be screened and given appropriate advice to ameliorate the future symptoms. For some severe common and non-treatable autosomal recessive disorders, for example cystic fibrosis, carrier tests will probably soon be available for population screening of young people. Couples found to be carriers can then be offered prenatal diagnosis and termination of the pregnancy, if the fetus is affected. In the not-too-distant future the approaches will hopefully be treatment and correction of these disorders in the affected fetus or newborn.

Genes, Recessive↗
PubMed1992

Autosomal recessive gingival fibromatosis with distinctive facies.

Hereditary gingival fibromatosis is a rare condition occurring as an isolated anomaly or as part of a genetic syndrome. The isolated or syndromic disorders are usually inherited in an autosomal dominant manner, but an autosomal recessive form has been suggested. We report on male and female siblings who have gingival fibromatosis in association with specific facial dysmorphism. Their phenotype is depicted and described to document this hitherto unreported autosomal recessive gingival fibromatosis syndrome.

Adolescent↗
PubMed1995

Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan.

A large Pakistani family with several consanguineous marriages is described, in which autosomal recessive retinitis pigmentosa is segregating. Linkage studies revealed close linkage between the disease locus and six loci on chromosome 1q (D1S158, F13B, D1S422, D1S412, D1S413, and D1S53) with maximum lod scores ranging from 0.988-4.657 at theta = 0.065-0.235. However, the analysis of individual nuclear families showed very close linkage without recombination in three branches and several recombinants and negative lod scores throughout in the fourth branch. These results strongly suggest that mutations of two different genes are responsible for the disease in the 'linked' and 'unlinked' branches. Parallel to the linkage heterogeneity, clear phenotypic differences have been observed among the 'linked' and 'unlinked' parts. Our findings demonstrate that in case of recessive disorders the possibility of non-allelic genetic heterogeneity should always be considered, even within the same kindred and in genetic isolates if a largely extended pedigree is analysed.

Chromosome Mapping↗
PubMed1996

A new autosomal recessive syndrome of pachygyria.

Pachygyria is a rare development disorder resulting from impaired neuronal migration. Usually, it is a sporadic phenomenon, but rare dominant or autosomal recessive syndromes are known. This report describes a family in which the parents are first cousins and three of the siblings suffer from moderate mental retardation, pachygyria and strabismus. It is suggested that this is a distinct type of autosomal recessive pachygyria.

Abnormalities, Multiple↗
PubMed2006

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.

The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect is linked to the renal part of acid-base homeostasis, which is partly achieved by the regulated luminal secretion of H+ at the apical surface of the alpha-intercalated cells of renal collecting ducts. This is coupled to bicarbonate reabsorption with chloride counter transport across the basolateral membranes. Here, we describe the molecular findings of the first two Greek Cypriot families with recessive dRTA and the long-term clinical findings in four of five affected members. DNA linkage analysis with four polymorphic markers flanking the ATP6V1B1 gene on chromosome 2 gave evidence for positive linkage; direct DNA analysis by automated DNA sequencing revealed that patients in one family were homozygous for mutation 229+1G>T (IVS7+1G>T) and that patients in the second family were compound heterozygous for 229+1G>T and R157C. The mutations were found on four different haplotypes. Both the mutations were previously reported in patients of Turkish origin. Three known polymorphic variants were also identified. The five patients demonstrated the whole clinical spectrum of the disease including death in infancy, failure to thrive, rickets, nephrocalcinosis, nephrolithiasis, and episodes of hypokalemic paralysis. Some of the family members are now in their mid 30s and late 20s, and nephrolithiasis with recurrent renal colics is their main problem. Renal function has remained normal. In conclusion, early diagnosis in infancy and prompt treatment with alkali and potassium supplements is of great benefit to the patient with dRTA and ensures normal growth. The identification of responsible mutations facilitates antenatal or postnatal diagnosis in concerned families and improves the prognosis.

Acidosis, Renal Tubular↗
PubMed2004

Impact of liver transplantation on renal function of patients with congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease.

Congenital hepatic fibrosis (CHF) is an uncommon autosomal recessive malformation. It may be associated with extrahepatic manifestations such as polycystic kidney disease. The main consequence is portal hypertension and bleeding from varices. Despite liver transplantation as a therapeutic option for this patient, long-term impact of liver transplantation on renal functions of patients with autosomal recessive polycystic kidney disease with associated liver disease is not well known. In this study, we aimed to analyze the patient's renal function after liver transplantation by creatinine clearance, glomerular filtration rate, and renal resistive indexes. Between March 1997 and September 2002, three of 50 orthotopic liver transplantation (OLT) were performed because of CHF associated with ARPKD at Ege University Organ Transplantation and Research Center. Baseline immunosuppression consisted of prednisone and cyclosporine A (CSA). The mean follow-up of the patients was 2.1 yr. Blood urea and creatinine levels were decreased after operation in all patients and remained within the normal range at the sixth and 12th month, whereas the level of the third patient were increased at the 18th month. RRI values of patients were not found different at the sixth month whereas, RRI values of patients were decreased at the 12th month and remained unchanged at the 18th month of follow-up. During the study period hypertension developed in one patient at the 16th month and resolved with antihypertensive treatment and decreasing dosage of CSA. Kidney function has remained satisfactory in all of the patients despite the use of cyclosporine. OLT can provide good survival in patients with CHF associated with ARPKD.

Adolescent↗
PubMed1986

An Lu(a-b-) phenotype caused by an X-linked recessive gene.

The family of a male Lu(a-b-) propositus whose red cells showed some characteristics of the dominant and some of the recessive type of Lu(a-b-) phenotype was studied. The investigation revealed a third genetic background for this rare phenotype, an X-borne suppressor recessive in effect. The notation proposed is XS1 for the normal gene and XS2 for the suppressor gene which affects the expression of Lutheran and other antigens.

Female↗
PubMed1975

On estimating the frequency of a recessive gene in a random mating population.

The maximum likelihood estimator of the frequency of a recessive gene in a random mating population is simply the square root of the proportion of recessive individuals in a random sample. However, its asymptotic variance, i.e. the inverse of Fisher's information, has an unexpected functional form, and its use may lead to incorrect inferences. An explanation for this is sought by deriving an expansion for the exact variance of the estimator. Further, a number of calculations reveal conditions under which the asymptotic variance provides a reasonable approximation to the exact variance. Lastly, the problem of setting confidence limits to the gene frequency is discussed, with a number of approximations being considered.

Gene Frequency↗
PubMed1989

Familiarity, recessivity and germline mosaicism.

In man evidence of autosomal recessive disease is usually based on a high sib risk, absence of parent-child transmission and increased consanguinity. Discrimination from what are sometimes termed multifactorial disorders and their associated environmental effects is usually based on the latter having a lower recurrence risk, an increased recurrence risk after a second affected child and no increase in consanguinity. Another cause of familial disorders with recurrence restricted to sibs which has received little attention is germline mosaicism for a mutation expressed as a dominant. If, for example, an embryonic mutation resulted in half the precursors of the germ cells carrying a mutation with dominant expression, then the proportion of haploid nuclei conveying the mutation, which is the recurrence risk, would be a quarter. If severity precluded reproduction the disorder would tend to be classified as a recessive. While germline mosaicism will rarely be expressed with such a high recurrence risk, the estimation of this risk in rare disorders is difficult due to extreme and unpredictable bias in ascertainment.

Consanguinity↗
PubMed1989

Recursive descent probabilities for rare recessive lethals.

Recursively computed descent probabilities provide an effective way to evaluate possible ancestries of rare alleles segregating in large and complex genealogies, but they ignore information other than the descent to a small set of current gene copies. We show how descent probability computations can be modified to incorporate the fact that no ancestor can be affected by a lethal recessive trait. This methodology is applied to two rare recessive traits segregating in a complex Hutterite (Lehrerleut) genealogy.

Alleles↗
PubMed1996

Autosomal recessive disorders in Saguenay-Lac-Saint-Jean (Quebec, Canada): a study of inbreeding.

Saguenay Lac-Saint-Jean (SLSJ) is a geographically isolated region of northeastern Quebec in which several autosomal recessive disorders have a high incidence. We calculated the inbreeding coefficients of 567 probands and compared them to 1701 matched control individuals. The mean inbreeding coefficient of the group containing all 567 probands was 2.73 times higher than that of the controls (0.001772 versus 0.00065). Thirteen percent (75/567) of the probands were inbred, but only 5% were born to matings between spouses related as second-degree cousins or closer. No marriage between uncle and niece and only two marriages between first-degree cousins were identified in the disorder group. These results strongly suggest that the high incidence of the autosomal recessive disorders in SLSJ is the result of a founder effect.

Consanguinity↗
PubMed2006

A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.

Autosomal recessive retinitis pigmentosa (arRP) is the commonest form of RP worldwide. To date 22 loci have been implicated in the pathogenesis of this disease; however none of these loci independently account for a significant proportion of recessive RP. Linkage studies of arRP in consanguineous families have been mainly based on homozygosity mapping, but this strategy cannot be applied in the case of non-consanguineous families. Therefore, we implemented a systematic approach for identifying the disease locus in three non-consanguineous Chinese families with arRP. Initially, linkage analysis using SNPs/microsatellite markers or mutation screening of known arRP genes excluded all loci/genes except RP25 on chromosome 6. Subsequently a whole genome scan for the three families using the 10K GeneChip Mapping Array was performed, in order to identify the possible disease locus. To the best of our knowledge this is the first report on the utilisation of the 10K GeneChip to study linkage in non-consanguineous Chinese arRP. This analysis indicates that the studied families are probably linked to the RP25 locus, a well defined arRP locus in other populations. The identification of another ethnic group linked to RP25 is highly suggestive that this represents a major locus for arRP.

Asian People↗
PubMed1980

Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.

Four children are described from three Saudi Arabian families suffering from osteopetrosis, distal renal tubular acidosis and cerebral calcification associated clinically with mental retardation, stunted growth, abnormal teeth and a similar facial appearance. The syndrome is inherited as an autosomal recessive. The growth retardation is attributed to renal tubular acidosis but no metabolic link is evident between its other major features, and the fundamental defect is unknown. The disorder is radiologically indistinguishable from the classical recessive (malignant) and dominant (benign) forms of osteopetrosis but its other characteristics establish it as a separate disease entity.

Acidosis, Renal Tubular↗
PubMed1983

Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.

The clinical manifestations, biochemical, electrocardiographic, histological and histochemical features of a severe autosomal recessive muscular dystrophy (MD)--as seen in 15 members of a large Sudanese kindred, both male and female--are reported and discussed. The age of onset ranged from three to five years, the pattern of muscular weakness was similar to that of Duchenne MD and pseudohypertrophy was a remarkable feature. Both sexes became completely dependent by 16 years, and died at or before 20 years of age. The clinical picture in this family and the histological features are compared with those of Duchenne MD and with cases reported from Tunisia, Qatar and Libya. Certain clinical and histological features distinguish all of these types from each other and from the milder autosomal recessive MD of childhood which is more usual in the United Kingdom, Europe, Australia and North America.

Adolescent↗
PubMed1991

Is genetic susceptibility to pre-eclampsia conferred by homozygosity for the same single recessive gene in mother and fetus?

OBJECTIVE: To determine whether any simple, purely genetic mechanism can account for susceptibility to pre-eclampsia. DESIGN: Six simple Mendelian models of inheritance were considered, and predictions concerning the incidence of pre-eclampsia in various family members of index cases were calculated for each genetic model. Data were then extracted from published family studies in which a suitable disease definition had been used, and compared to our theoretical expectations. RESULTS: Only one of the genetic models considered, in which both mother and fetus must express the same recessive gene to confer susceptibility, was consistent with the observed incidence values for relatives of index cases. This model was also consistent with the putative association with HLA-DR4, but could not account for the comparative rarity of pre-eclampsia in parous women. CONCLUSION: Homozygosity for a single recessive gene shared by mother and fetus, unlike five other genetic mechanisms tested, is consistent with published family studies in pre-eclampsia, and should be considered the best working hypothesis at present.

Disease Susceptibility↗
PubMed2004

Age-specific familial risks for renal cell carcinoma with evidence on recessive heritable effects.

BACKGROUND: Systematic comparisons of mode of inheritance for renal cell carcinoma (RCC) have not been carried out. The occurrence of cancer in parents and offspring may be due to dominant causes, whereas cancer affecting only siblings may indicate a recessive causation. Environmental effects need to be excluded. METHODS: The Swedish Family-Cancer Database includes all Swedes born after 1931 with their biologic parents, totaling 10.2 million persons. Cancer data were retrieved from the Swedish Cancer Registry from years 1961 to 2000, included 2415 cases of RCC in offspring and 18531 in parents. Standardized incidence ratios (SIRs) and 95% CI limits were calculated for offspring whose parents or sibling were diagnosed with RCC. RESULTS: The SIRs for siblings for RCC depended on their age difference. SIR was 7.63 (95% CI 3.63-14.08) when the age difference was less than 3 years and compared to 3.43 (95% CI 1.77-6.02) for large age difference. SIRs for familial risk of RCC were 1.73 (95% CI 1.31-2.26) when a parent and 4.58 (95% CI 2.87-6.94) when a sibling had RCC. Age-specific analysis of familial RCC among siblings revealed maxima at ages 40 to 49 and 60 to 68 years. CONCLUSION: The findings in the present study offer evidence on recessive effects in early onset RCC.

Adolescent↗
PubMed2005

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.

BACKGROUND: Familial renal glucosuria (FRG) is an isolated disorder of proximal tubular glucose transport, characterized by abnormal urinary glucose excretion in the presence of normal blood glucose levels. Generalized aminoaciduria has not generally been considered a feature of this disorder. FRG has recently been shown to result from mutations in SLC5A2, encoding the kidney-specific low-affinity/high-capacity Na+/glucose cotransporter, SGLT2. The purpose of this study was to examine the phenotypic and genetic characteristics of three unrelated consanguineous families with FRG accompanied by aminoaciduria. METHODS: Six children with autosomal-recessive FRG and 12 unaffected family members were evaluated at the clinical and molecular levels. DNA sequence analysis of the entire coding sequence of SLC5A2 was performed in all affected individuals. Haplotype analysis using four polymorphic markers flanking SLC5A2 was performed in all study participants. RESULTS: All affected children were asymptomatic, but displayed massive glucosuria (83 to 169 g/1.73 m(2)/day) accompanied by generalized aminoaciduria. Sequence analysis in all patients revealed a novel homozygous missense mutation in exon 8 of SLC5A2, resulting in a lysine to arginine substitution at position 321 of SGLT2 amino acid sequence (K321R). The mutation was confirmed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and was found to completely cosegregate with the FRG phenotype. Haplotype analysis is consistent with identity by descent for the mutation. The K321 residue, presumed to be located in the eighth transmembrane domain of SGLT2, is highly conserved across SGLT homologues. CONCLUSION: Our findings confirm that mutations in SLC5A2 result in autosomal-recessive FRG. The severe glucosuria in homozygotes for the K321R mutation highlights the importance of the eighth SGLT2 transmembrane domain for normal glucose transport. We suggest that the generalized aminoaciduria accompanying FRG is a consequence of the severe impairment in glucose reabsorption, and is probably not directly related to the SGLT2 mutation. The exact role of the aberrant glucose transport in the pathogenesis of aminoaciduria remains to be established.

Amino Acid Sequence↗
PubMed1989

Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety.

With few exceptions, epidermolysis bullosa simplex (EBS) is transmitted as an autosomal dominant trait. All cases of autosomal recessive EBS reported to date have been associated with significant extracutaneous disease (including anemia, marked growth retardation, dentition abnormalities, and/or concurrent neuromuscular disease), early infant mortality, or often, rather extensive cutaneous involvement. In some, the cutaneous morphology has even suggested junctional or dystrophic disease. We cared for a kindred in which four individuals were affected with an autosomal recessive form of EBS with cutaneous findings most often suggestive of Weber-Cockayne disease. Except for scattered oral erosions in one patient, there was no evidence of associated extracutaneous disease. These findings demonstrate the increasing complexity of even the simplex forms of inherited epidermolysis bullosa. This obviously has implications for genetic counseling.

Adolescent↗