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PubMed1996

Keratouveitis--two families with a dominantly inherited disorder.

Herein we describe a relapsing acute keratouveitis without known aetiology. The disorder has been found in two families and shows an autosomal dominant inheritance. Acute anterior uveitis can be traced for five generations in one of these families. In the same family there is also an association to an autosomal dominantly inherited vascular disorder (Osler-Rendu-Weber disease). The anterior uveitis has an acute onset, a recurrent pattern and a mild activity. The associated keratitis is seen as a midstromal thin flat disc in the central cornea, sometimes with folds in Descemet's membrane as a sign of oedema. This causes a change in refraction and a mild reduction of the corrected visual acuity. There is a prompt response to topical steroid treatment, but the corneal changes have in one case become permanent. Clinical documentation and the mode of inheritance is presented.

Acute Disease↗
PubMed2006

Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.

Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, the 1494C-->T mutation was reported in two large Chinese pedigrees with maternally inherited NSHL. In this study, sequencing of the 12S rRNA gene in a Spanish family with maternally inherited NSHL showed the presence of the 1494C-->T mutation. An additional screening of 1339 unrelated Spanish patients with NSHL allowed the authors to find two other families with the mutation. Audiological data were obtained from 17 confirmed 1494C-->T carriers, which showed that the hearing loss was sensorineural, bilateral and symmetrical, with a remarkable variability in age of onset and severity. Three carriers were asymptomatic. Three affected carriers had a history of treatment with aminoglycoside antibiotics. The mitochondrial genome of one affected person from each of these three families was entirely sequenced, and it was established that they belong to different mitochondrial haplogroups (H, U5b, U6a). The study results further support the pathogenic role of 1494C-->T on hearing, and show that this mutation can be found in different Caucasian mitochondrial DNA backgrounds.

Adult↗
PubMed2003

Further evidence for the role of genes on chromosome 2 and chromosome 5 in the inheritance of pulmonary function.

The spirometric measurements FEV1, FVC, and the ratio FEV1/FVC are used in the diagnosis of lung function disorders. Therefore, understanding the genetics underlying these spirometric measurements will increase our knowledge of the genetics of pulmonary function. FEV1 and FVC were measured on 264 members of 26 Utah Genetic Reference pedigrees, originally collected for the Centre d'Etude du Polymorphisme Humain genetic mapping project. Using segregation analysis, we inferred major locus inheritance of the FEV1/FVC ratio, although we could not distinguish between a dominant or recessive mode of inheritance. No evidence of major locus inheritance was found for either FEV1 or FVC. Suggestive evidence of linkage for the ratio FEV1/FVC was found on chromosome 2 (heterogeneity lod = 2.36, dominant model) and chromosome 5 (heterogeneity lod = 2.23, recessive model), replicating linkages from other studies. In addition, nonparametric variance component linkage analysis showed linkage of FEV1/FVC in both of these regions, providing further support to the results. No nonparametric lod scores over 1.5 were obtained for either FEV1 or FVC.

Adolescent↗
PubMed2001

Maternal inheritance of the chloroplast genome in Eucalyptus globulus and interspecific hybrids.

The utility of chloroplast DNA (cpDNA) in Eucalyptus, either as a molecular marker for genetic studies or as a potential vehicle for genetic manipulation, is based on knowledge of its mode of inheritance. Chloroplast inheritance in angiosperms can vary among and within species, and anomalous inheritance has been reported in some interspecific-hybrid combinations. In Eucalyptus, abnormalities of pollen-tube growth occur in a number of interspecific-hybrid combinations, and this might increase the likelihood of anomalous chloroplast transmission. We used a rapid PCR technique to determine chloroplast heritability in 425 progeny of Eucalyptus, comprising 194 progeny of the premier pulpwood species E. globulus and 231 interspecific hybrids between E. globulus and E. nitens (F1, F2, and backcrosses). At this sampling intensity, no pollen-mediated transmission of cpDNA was found in any of the 40 families tested. The results are discussed with reference to chloroplast engineering and the use of cpDNA as a seed-specific marker in phylogeographic studies of Eucalyptus.

Chloroplasts↗
PubMed2003

Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.

Mutations in the GJB2 (connexin 26-Cx26) gene are responsible for 20-50% of cases with prelingual non-syndromic deafness in a large part of the world including Turkey. Although most of the cases with Cx26 deafness have a recessive mode of inheritance, a small group of families demonstrated dominant or pseudodominant inheritance. In this report we present a Turkish family in which the proband had congenital profound deafness and was found to be homozygous for the 35delG mutation, whereas the father and a paternal uncle who had milder, late-onset sensorineural hearing loss had compound heterozygous 35delG and L90P mutations. This family and previous reports with the L90P mutation demonstrate that the hearing loss associated with the L90P/35delG genotype is consistently milder than that of 35delG homozygotes. GJB2 gene screening should be considered in families with seemingly dominant inheritance and late-onset moderate hearing loss.

Adult↗
PubMedDate not supplied

[The origin of extrachromosomal inheritance factors (plasmids) in bacteria].

Present status of the problem of origin of extra-chromosomal inheritance elements is reviewed in the light of literary data and some results obtained by the author. The role of plasmids in the ecology of bacteria, in their adaptive variability and evolution is discussed. Extra-chromosomal inheritance is regarded as a particular case of biological inheritance.

Bacteria↗
PubMed1978

Investigations on the inheritance of nemaline myopathy.

Extensive investigations on 11 patients with nemaline myopathy (six index patients, five relatives), their parents, and some healthy relatives were carried out. In one family, nemaline myopathy was inherited as an autosomal dominant trait. No linkage between the locus of nemaline myopathy and the locus of seven informative genetic markers (out of 25 investigated markers) was found. In two families an autosomal recessive inheritance could be demonstrated with certainty. In these families, both parents of each index patient had rods and an increased number of fibers with internal nuclei. In two other families, one or both parents of each index patient had an increased number of fibers with internal nuclei, also indicating the possibility of autosomal recessive inheritance in these cases. It can be concluded that there are two types of nemaline myopathy. However, these two diseases could not be separated on a clinical or histopathological basis.

Adolescent↗
PubMed2007

Inheritance of Meniere's disease in the Finnish population.

OBJECTIVE: To study the inheritance of Ménière's disease in the Finnish population. DESIGN: A detailed questionnaire was sent to patients with symptoms resembling Ménière's disease previously examined at the Department of Otorhinolaryngology, Helsinki University Central Hospital, Finland. PATIENTS: The study population comprised 118 patients with symptoms resembling Ménière's disease. The patients were divided into groups based on the diagnostic criteria by the Committee on Hearing and Equilibrium of the American Academy of Otolaryngology-Head and Neck Surgery. MAIN OUTCOME MEASURES: Relatives with Ménière's disease, geographic distribution of birthplaces of grandparents, symptoms, vestibular findings, and audiologic and otoneurologic tests. RESULTS: Approximately 15% of the patients with definite Ménière's disease were found to represent familial disease. The majority of these patients were female, and they had more severe and intense attacks compared with patients with sporadic Ménière's disease. The mode of inheritance is autosomal dominant with incomplete penetrance. CONCLUSIONS: A significant part of Ménière's disease is inherited. The use of genetic isolates in which genetic homogeneity can be assumed might lead to the identification of gene defects leading to Ménière's disease.

Female↗
PubMed2001

Early life stress and inherited variation in monkey hippocampal volumes.

BACKGROUND: Opportunities for research on the causes and consequences of stress-related hippocampal atrophy are limited in human psychiatric disorders. Therefore, this longitudinal study investigated early life stress and inherited variation in monkey hippocampal volumes. METHODS: Paternal half-siblings raised apart from one another by different mothers in the absence of fathers were randomized to 1 of 3 postnatal conditions that disrupted diverse aspects of early maternal care (n = 13 monkeys per condition). These conditions were previously shown to produce differences in social behavior, emotional reactivity, and neuroendocrine stress physiology. Hippocampal volumes were subsequently determined in adulthood by high-resolution magnetic resonance imaging. RESULTS: Adult hippocampal volumes did not differ with respect to the stressful postnatal conditions. Based on paternal half-sibling effects, the estimated proportion of genetic variance, ie, heritability, was 54% for hippocampal size. Paternal half-siblings with small adult hippocampal volumes responded to the removal of all mothers after weaning with initially larger relative increases in cortisol levels. Plasma cortisol levels 3 and 7 days later, and measures of cortisol-negative feedback in adulthood were not, however, correlated with hippocampal size. CONCLUSIONS: In humans with mood and anxiety disorders, small hippocampal volumes have been taken as evidence that excessive stress levels of cortisol induce hippocampal volume loss. Results from this study of monkeys suggest that small hippocampi also reflect an inherited characteristic of the brain. Genetically informed clinical studies should assess whether inherited variation in hippocampal morphology contributes to excessive stress levels of cortisol through diminished neuroendocrine regulation.

Animals↗
PubMed2000

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.

The Prader-Willi syndrome (PWS) critical region on 15q11-q13 is subject to imprinting. PWS becomes apparent when genes on the paternally inherited chromosome are not expressed. Familial PWS is rare. We report on a family in which a male and a female paternal first cousin both have PWS with cytogenetically normal karyotypes. Fluorescence in situ hybridization (FISH) analysis shows a submicroscopic deletion of SNRPN, but not the closely associated loci D15S10, D15S11, D15S63, and GABRB3. The cousins' fathers and two paternal aunts have the same deletion and are clinically normal. The grandmother of the cousins is deceased and not available for study, and their grandfather is not deleted for SNRPN. DNA methylation analysis of D15S63 is consistent with an abnormality of the imprinting center associated with PWS. "Grandmatrilineal" inheritance occurs when a woman with deletion of an imprinted, paternally expressed gene is at risk of having affected grandchildren through her sons. In this case, PWS does not become evident as long as the deletion is passed through the matrilineal line. This represents a unique inheritance pattern due to imprinting.

Adolescent↗
PubMed1996

A family inheriting different subtypes of acute myelogenous leukemia.

Rare inherited cancer syndromes have proven invaluable for the identification of genes involved in the more frequent corresponding noninherited cases. We report on a family with an adult onset, incompletely penetrant, autosomal dominant syndrome of myelodysplasia and acute myelogenous leukemia, affecting at least eight, and probably ten, individuals from three generations. The patients have developed leukemias differing in morphologic subtype, tumor cytogenetics, and abruptness of presentation. Some have presented with acute onset and others with protracted myelodysplasia. This family does not have an unusual incidence of other malignancies; however, one person at 50% risk of inheriting this gene developed atypical mycobacterium infection in the absence of leukemia, but also without appreciable risk factors for acquired deficiencies in cellular immunity. Features common to affected family members, including the individual with mycobacterium infection, are the early presence in the bone marrow of red cell and platelet maturation defects. A search for mutations in diseased marrows fails to detect abnormalities of p53 or N-ras. Two of the affected family members, third degree relatives, have co-inherited a constitutional chromosomal banding variation of 9p21-22, potentially suggesting linkage to this locus. The variable penetrance and expressivity of this syndrome support a multistep model of leukemia evolution, in which the gene defined by this family's syndrome is the signal step.

Adolescent↗
PubMed1998

Retinal projections in mice with inherited retinal degeneration: implications for circadian photoentrainment.

The availability of naturally occurring and transgenic retinal mutants has made the mouse an attractive experimental model to address questions regarding photoentrainment of circadian rhythms. However, very little is known about the retinal cells and the retinal projections to the nuclei of the murine circadian timing system. Furthermore, the effect of inherited retinal degeneration on these projections is not understood. In this report, we have used pseudorabies virus as a neuroanatomical tract tracer in mice to address a series of questions: Which retinal cells mediate circadian responses to light? What is the nature of the retinohypothalamic projection? What is the impact of the inherited retinal disorder, retinal degenerate (rd/rd), on the structures of the photoentrainment pathway? Our results show that a class ofretinal ganglion cell, morphologically similar to the type III ganglion cells of the rat, appears to project to central circadian structures of the mouse. They are few in number and sparsely distributed throughout the retina. The low number and broad distribution of these specialized retinal ganglion cells may be an adaptive mechanism to integrate environmental irradiance without compromising the spatial resolution required for vision. In addition, viral infection of conelike and rodlike photoreceptors and amacrinelike cells suggest that these cells may mediate or contribute to circadian responses to light. Inherited retinal degeneration has no obvious effect on the anatomy of the retinal cells or their projections to the circadian axis. These anatomical findings are consistent with our previous findings showing that aged rd/rd mice are capable of regulating their circadian rhythms by light with unattenuated sensitivity.

Animals↗
PubMed1999

Inherited cancer and the primary care physician. Barriers and strategies.

Difficulties faced by primary care physicians as they increase their responsibility for the diagnosis of inherited cancer risk include issues of cognitive strategy, the context of care, and cultural and institutional factors. Charateristics common to many genetic disorders--such as rarity, variability, implications for relatives, and temporal pattern--render our usual cognitive strategies less effective. Constraints of managed care, care teams, and high turnover of panels create a particularly difficult context for the care of people at risk for inherited cancer. Echoes of the eugenics movement, the implications of expanding genetic knowledge, and concerns about discrimination all complicate collaborative clinical decision making. Eight strategies are suggested to cope with these barriers to diagnosis. Primary care physicians also face challenges managing patients identified as at increased risk for inherited cancer. These include confidentiality, coordination and communication. Concerns for protecting the patient's confidentiality can inadvertently leave primary care physicians with partial information. Coordination is complicated when multiple organ systems and individuals are at risk, and knowledgable specialty centers may be distant. Communication requires sensitivity and skill in translating complex concepts from molecular biology and statistics into lay terms. Seven strategies are suggested to help with management.

Adult↗
PubMed1997

Mitochondrial inheritance: cell cycle and actin cable dependence of polarized mitochondrial movements in Saccharomyces cerevisiae.

Asymmetric growth and division of budding yeast requires the vectorial transport of growth components and organelles from mother to daughter cells. Time lapse video microscopy and vital staining were used to study motility events which result in partitioning of mitochondria in dividing yeast. We identified four different stages in the mitochondrial inheritance cycle: (1) mitochondria align along the mother-bud axis prior to bud emergence in G1 phase, following polarization of the actin cytoskeleton; (2) during S phase, mitochondria undergo linear, continuous and polarized transfer from mother to bud; (3) during S and G2 phases, inherited mitochondria accumulate in the bud tip. This event occurs concomitant with accumulation of actin patches in this region; and (4) finally, during M phase prior to cytokinesis, mitochondria are released from the bud tip and redistribute throughout the bud. Previous studies showed that yeast mitochondria colocalize with actin cables and that isolated mitochondria contain actin binding and motor activities on their surface. We find that selective destabilization of actin cables in a strain lacking the tropomyosin 1 gene (TPM1) has no significant effect on the velocity of mitochondrial motor activity in vivo or in vitro. However, tpm1 delta mutants display abnormal mitochondrial distribution and morphology; loss of long distance, directional mitochondrial movement; and delayed transfer of mitochondria from the mother cell to the bud. Thus, cell cycle-linked mitochondrial motility patterns which lead to inheritance are strictly dependent on organized and properly oriented actin cables.

Actins↗
PubMed1998

Relative predispositional effects and mode of inheritance of HLA-DRB1 alleles among community-based Caucasian females with rheumatoid arthritis.

Multiple HLA-DRB1 alleles encoding a shared epitope (SE) at amino acid positions 70-74 are associated with susceptibility to rheumatoid arthritis (RA). However, the nature of the association and the mode of inheritance differ depending upon the source of RA patients and laboratory methodology. We studied the relative predispositional effects (RPE) and mode of inheritance of DRB1 alleles among a community-based sample of 180 RA patients and 116 healthy controls, all Caucasian females. Polymerase chain reaction (PCR)-based assays were used for DRB1 genotyping, and the genotypic distributions were analyzed by both the RPE and antigen genotype frequency among patients (AGFAP) methods. We examined the evidence of synergy among DRB1 alleles for RA risk by comparing the observed DRB1 genotype distribution to that predicted under Hardy-Weinberg equilibrium. Fifty-six percent of RA cases were attributable to DRB1 alleles encoding the SE. The RPEs of DRB1 alleles were *0401 > *0404 > *1001 > *0408 > *0101. The strength of the RA association was not significantly different for these alleles. The AGFAP analysis was consistent with a recessive mode of inheritance for DRB alleles, while an additive (dominant) model was rejected. We found no evidence of synergy for RA risk among individual DRB1 alleles based on comparison of the observed vs. predicted genotype distributions. These results suggest that among community-based Caucasian females with RA, the DRB1 RA susceptibility gene influences disease risk in a recessive fashion without synergy among individual DRB1 alleles.

Adult↗
PubMed2000

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

Cantú syndrome (CS) is characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial appearance; autosomal recessive inheritance has been postulated. We report on a Mexican family with CS; the affected members are the 44-year-old father and his two children (a male and female), aged 14 and 4 years, respectively; each shows the classic characteristics, but the father and the brother also have a previously unreported feature, namely, a thick calvarium. This is the first reported instance of male-to-male transmission of CS. With the paternal age effect found in the reported sporadic cases and the segregation analysis [Robertson et al., 1999], autosomal dominant inheritance is more likely than autosomal recessive inheritance. The cases of affected sibs reported by Cantú et al. [1982] could be explained by parental gonadal mosaicism.

Adolescent↗
PubMed2001

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

Leber hereditary optic neuropathy (LHON) is a major cause of inherited blindness in young males. Approximately 1 in 7 individuals with LHON harbor a mixture of mutated and wild-type (normal) mtDNA (heteroplasmy), and the risks of developing blindness in heteroplasmic LHON individuals are not well characterized. MtDNA is inherited exclusively down the maternal line, and although the risks of a relative within a homoplasmic LHON pedigree are relatively well established, the risks of transmission in heteroplasmic LHON pedigrees have not been studied in detail. We analyzed 17 independent pedigrees that harbor the most prevalent LHON mutation: G11778A. The pedigrees were influenced by incomplete ascertainment bias, which was reduced by omitting the affected probands from the analysis. We made the following observations: (1) The frequency of blindness in males was related to the mutation load in that individual's blood. (2) Mothers with < or = 80% mutant mtDNA in blood were less likely to have clinically affected sons than mothers with 100% mutant mtDNA in their blood. (3) Within individual lineages, changes in mutation load from one generation to the next were largely determined by random genetic drift in these pedigrees. This study provides insights into the mutation load, or threshold, necessary for expression of the optic neuropathy, the relationship between mutation load in the mother and the risk of blindness in her children, and the complex inheritance of heteroplasmic mtDNA defects.

DNA, Mitochondrial↗
PubMed1985

Concomitant inheritance of alpha-thalassemia in beta 0- thalassemia/Hb E disease.

Concomitant inheritance of alpha-thalassemia in patients with beta 0-thalassemia/hemoglobin (Hb) E disease was detected by restriction endonuclease DNA mapping. Among 42 patients with beta 0-thalassemia/Hb E disease, seven were found to have an alpha-thalassemia-2 haplotype. Of these, five belonged to the rightward or 3.7-kb type of alpha-thalassemia-2 and the remaining two the leftward or 4.2-kb type. All the seven patients with alpha-thalassemia-2 haplotype had hemoglobin levels of 7.4 g/dl or above; those without detectable alpha-thalassemia had hemoglobin levels both higher and lower than 7.4 g/dl. The latter attended the clinic regularly, the former did occasionally. These findings suggest that concomitant inheritance of alpha-thalassemia can alleviate the severity of beta 0-thalassemia/Hb E disease. Failure to find alpha-thalassemia-1 haplotype in these patients suggests that concomitant inheritance of alpha-thalassemia-1 with beta 0-thalassemia/Hb E might lead to so mild a condition that the individuals do not present clinically. The fact that many patients without a detectable alpha-thalassemia haplotype also had hemoglobin levels of 7.4 g/dl or higher suggests that there are additional factors responsible for the mildness of beta 0-thalassemia/Hb E disease.

Adolescent↗