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PubMed1992

A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait.

In 1982, Nadol & Burgess reported a new syndrome of cataract and progressive sensorineural hearing loss, inherited in an autosomal dominant fashion. Extensive histopathologic studies of the inner ear of the proband revealed severe cochleosaccular degeneration. No other sporadic or familial cases of such a genetic syndrome have subsequently been described. We report here a second family in which the syndrome of cataract and progressive sensorineural deafness is observed in eight members, and is inherited according to an autosomal dominant pattern.

Cataract↗
PubMed1993

Inheritance of intrahepatic cholestasis of pregnancy in one kindred.

We report three sisters with intrahepatic cholestasis of pregnancy (ICP) and the pedigree of the family, including six generations. ICP was observed in five successive generations; most of the patients also had cholelithiasis. The uniform expression, the complete penetrance of the trait and the direct parent-to-child transmission support the Mendelian dominant mode of inheritance. Determination of HLA A, B and C haplotype was made in five ICP patients, without any findings of HLA type common to everyone. X-linked inheritance cannot be excluded in this study.

Adult↗
PubMed1998

Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.

X-linked mental retardation (XLMR) is a genetically and clinically heterogeneous common disorder. A cumulative frequency of about 1/600 male births was estimated by different authors, including the fragile X syndrome, which affects 1/4000 males. Given this very high cumulative frequency, identification of genes and molecular mechanisms involved in other XLMRs, represents a challenging task of considerable medical importance. In this report we describe clinical and molecular investigations in the family of a mentally retarded boy for whom a microdeletion in Xp21.3-22.1 was detected within the frame of a previously reported systematic search for deletion using STS-PCR screening. Thorough clinical investigation of the sibling showed that two affected brothers exhibit a moderate non-specific mental retardation without any additional neurological impairment, statural growth deficiency or characteristic dysmorphy. Molecular analysis revealed that the microdeletion observed in this family is an inherited defect which cosegregates with mental retardation as an X-linked recessive condition, since both non-deleted boys and transmitting mother are normal. These results and the inherited microdeletion detected within the same region associated with non-specific MR, reported by Raeymaekers et al., suggest that Xp21.3 MR locus is prone to deletions. Therefore, search for microdeletions in the eight families assigned by linkage analysis to this region might allow a better definition of the critical region and an identification of the gene involved in this X-linked mental retardation.

Child↗
PubMed1998

Autosomal dominant inheritance of adducted thumbs and other digital anomalies.

Isolated adducted thumbs is an uncommon malformation that occurs sporadically in the majority of cases although some affected families have been reported. Previously, autosomal dominant inheritance was suggested in two familial cases, but this mode of inheritance has not been confirmed. Here we describe a family with adducted thumbs and other digital anomalies in which seven members (six females and one male) are affected in three consecutive generations. Additionally, the patients showed mild abnormalities of fingers 2nd-4th bilaterally and hypoplasia of the middle phalanx of the 5th fingers. This family represents an autosomal dominant condition that apparently has not been previously reported.

Adolescent↗
PubMed1975

The non-Mendelian inheritance of Lewis-c blood group substance, as demonstrated in the case of a Bombay, Le(a-b-c-) saliva.

A Bombay, Le(a-b-) saliva was shown to lack Pneumococcus type XIV activity, an unusual situation, since this sample should be rich in this precursor to the ABO blood group substances. However, the sample was found to contain a new serological specificity, Le-c. It is argued that simple Mendelian inheritance does not occur with Le-c and single gene control cannot be demonstrated. Failure to repress a fetal gene at birth, as implicated by the similarity in structure between Le-c and carcinoembryonic antigen [SIMMONS and PERLMANN], has been excluded as the mechanism of inheritance of this blood group substance, due to the inability to detect carcinoembryonic antigen in the test saliva.

ABO Blood-Group System↗
PubMed1982

An inherited RBC characteristic, NOR, resulting in erythrocyte polyagglutination.

This report describes a new inheritable red blood cell characteristic, termed NOR, that is associated with polyagglutination. The NOR factor was shown to be inherited in an apparent dominant manner by 5 members of a two-generation family. NOR was clearly demonstrated to be a unique form of polyagglutination distinguishable from previously reported forms by serological tests using seed lectins, snail agglutinins, enzymes and absorption techniques. The NOR factor was characterized by the lack of reactivity with various seed and snail lectins, enhanced serum agglutinability after RBC proteolytic enzyme treatment, and the ability of hydatid cyst fluid to inhibit the serum hemagglutination reaction.

ABO Blood-Group System↗
PubMed1996

Inherited mutations within the calcium-binding sites of the integrin alpha IIb subunit (platelet glycoprotein IIb). Effects of the amino acid side chain and the amino acid position on cation binding.

To examine the effects of naturally occurring inherited mutations on the ability of the integrin alpha-subunit, also termed glycoprotein IIb (GPIIb), to bind metal ions, we prepared small synthetic peptides that encompassed individual cation-binding domains, and recombinant GPIIb poly peptides that encompassed all four Ca(2+)-binding domains, and examined their interactions with divalent cations by means of Tb3+-luminescence spectroscopy. Replacement of the highly conserved Gly418 residue, located within the flanking region of the fourth Ca(2+)-binding domain of GPIIb, with a negatively charged Asp residue resulted in marked reduction in the ability to bind divalent cations. A variant form of GPIIb with a deletion of two amino acids at the -1 and X positions of the fourth Ca(2+)-binding domain of GPIIb also failed to bind metal ions in a normal manner. In contrast, a Glanzmann mutation at the -1 position of the first Ca(2+)-binding domain of GPIIb had no effect on divalent-cation-binding ability with either synthetic peptides or recombinant GPIIb polypeptides. These data support the hypothesis that the highly conserved Gly normally found 7-8 residues N-terminal to integrin metal-binding domains plays a critical role in the maintenance of the conformation or orientation of surrounding EF-hand structures so that they can effectively interact with and bind divalent cations. Furthermore, inherited mutations at or near the divalent-cation-binding domains of GPIIb do not necessarily exert their biochemical effects by disruption of cation binding, but can interfere with integrin biogenesis in a Ca(2+)-independent manner.

Amino Acid Sequence↗
PubMed1995

Inheritance of spinal dysmyelination in calves.

A study was performed to establish the inheritance of spinal dysmyelination in cross-bred American Brown Swiss calves. Daughters of a carrier bull were mated to another carrier resulting in 254 calves. 228 calves were found to be normal while 25 calves were affected with spinal dysmyelination. One calf was excluded from the study. The number of affected males and females did not differ significantly. The ratio between normal and affected calves corresponded to the 7:1 ratio expected in the experimental design used. It is therefore concluded that spinal dysmyelination is an autosomal recessively inherited defect. All cases in Denmark can be traced to a single American Brown Swiss bull.

Animals↗
PubMed1997

Review: molecular approaches to inherited liver disease. Focus on Wilson disease.

Although infectious agents account for a large proportion of liver disease, inherited forms of liver disease, often treatable, must not be overlooked. New approaches to the cloning of disease genes are allowing an increased understanding of the basic defect of human diseases. Identification of disease genes can have practical applications for diagnosis, can provide information on prognosis and can lead to new therapies. This review focuses on selected inherited liver diseases and the knowledge to be gained from molecular studies. Three genetic diseases affecting the liver, Wilson disease, haemochromatosis and alpha 1-antitrypsin deficiency, are selected as examples of current approaches to the study of genetic liver disease.

Hemochromatosis↗
PubMed2007

Familial trends of inheritance in gastro esophageal reflux disease, Barrett's esophagus and Barrett's adenocarcinoma: 20 families.

We reported four families with familial Barrett's esophagus (FBE) in 1993. This follow-up study includes an additional 16 families with FBE, gastroesophageal reflux disease (GERD) and BE-related adenocarcinoma (BEAC) highlighting the familial trends of inheritance. A retrospective survey of endoscopic and histopathological reports on 95 confirmed cases of BE from 1975 to 2005 was performed and a detailed family history was obtained. Five representative pedigrees from a total of 20 are discussed here. These 20 families represent one of the largest cohorts studied over three decades from a single institution. Familial BE is more common than previously thought and the prevalence of GERD, BE and BEAC in these families is distinctly higher than with sporadic cases. The conditions appear to be inherited in an autosomal dominant fashion with incomplete penetrance. Hence diligence in taking family history with BE patients is critical since the endoscopic screening of relatives is warranted in FBE. Earlier diagnosis and surveillance of FBE should hopefully improve outcomes.

Adenocarcinoma↗
PubMed1987

A high frequency of inherited deficiency of complement component C4 in Darwin Aborigines.

A high frequency of serum complement component C4A deficiency may explain the higher prevalence and greater severity of systemic lupus erythematosus reported in Australian Aborigines. Inherited deficiencies of serum complement components C4A, C4B, and C2 were examined in two Australian Aboriginal populations from Darwin and Alice Springs and compared with the prevalence of complement deficiencies in white Australian blood donors. The frequency of C4A deficiency alleles was 29% in Darwin Aborigines compared with 12% in Alice Springs and 17% in Canberra blood donors. Partial C4B deficiency was also higher in Darwin Aborigines than in the other populations. Inherited deficiency of serum complement component C2 was not observed.

Alleles↗
PubMed2006

Rpe65 as a modifier gene for inherited retinal degeneration.

Light accelerates progression of retinal degeneration in many animal models of retinitis pigmentosa (RP). A sequence variant in the Rpe65 gene (Rpe65(450Leu) or Rpe65(450Met)) can act as a modulator of light-damage susceptibility in mice by influencing the kinetics of rhodopsin regeneration and thus by modulating the photon absorption. Depending on exposure duration and light intensity applied, white fluorescent light induces photoreceptor apoptosis and retinal degeneration in wild-type mice by the activation of one of two known molecular pathways. These pathways depend, respectively, on activation of the transcription factor c-Fos/AP-1 and on phototransduction activity. Here we tested Rpe65 as a genetic modifier for inherited retinal degeneration and analysed which degenerative pathway is activated in a transgenic mouse model of autosomal dominant RP. We show that retinal degeneration was reduced in mice expressing the Rpe65(450Met) variant and that these mice retained more visual pigment rhodopsin than did transgenic mice expressing the Rpe65(450Leu) variant. In addition, lack of phototransduction slowed retinal degeneration whereas ablation of c-Fos had no effect. We conclude that sequence variations in the Rpe65 gene can act as genetic modifiers in inherited retinal degeneration, presumably by regulating the daily rate of photon absorption through the modulation of rhodopsin regeneration kinetics. Increased absorption of photons and/or light sensitivity appear to accelerate retinal degeneration via an apoptotic cascade which involves phototransduction but not c-Fos.

Age Factors↗
PubMedDate not supplied

Analysis of prevalence of presumed inherited eye diseases in Entlebucher Mountain Dogs.

We analyzed the prevalence of the presumed inherited eye diseases (PIED) noncongenital cataract and progressive retinal atrophy in the Entlebucher Mountain Dog for systematic environmental influences and the additive genetic variation. Multivariate linear animal models using residual maximum likelihood methods and multivariate threshold animal models using Gibbs sampling in Bayesian analyses were used to estimate variance and covariance components. Data were obtained from the kennel club for Swiss Mountain Dog breeds in Germany. PIED were recorded using the standardized protocols of the Dortmunder Kreis, the German panel of the European Eye Scheme for Diagnosis of Inherited Eye Diseases in Animals (DOK). The material included 515 Entlebucher Mountain Dogs from 344 litters at 77 different kennels. Veterinary diagnoses for PIED were from the years 1981-2001. Pedigree information was available for up to nine generations. The multivariate animal model regarded the fixed effects of sex, birth year, experience of the veterinary ophthalmologist, litter size, percentage of examined dogs per litter, inbreeding coefficient and age at examination. The common environment of the litter and the additive genetic effect of the animal were taken into account as randomly distributed effects. The heritability estimates for PIED in the Entlebucher Mountain Dog were h2=0.15+/-0.06 (noncongenital cataract), and h2=0.34+/-0.08 (progressive retinal atrophy) in the linear model and h2=0.32+/-0.05 (noncongenital cataract) and h2=0.59+/-0.03 (progessive retinal atrophy) in the threshold model. The additive genetic correlation between noncongenital cataract and progressive retinal atrophy was moderately positive (r(g)=0.54+/-0.08) in the threshold model. The number of examinations performed by the veterinary ophthalmologists was associated with slightly higher heritabilities for noncongenital cataract and considerably higher heritabilities for progressive retinal atrophy. The investigated PIED in the Entlebucher Mountain Dog are genetically influenced and the size of the genetic parameters estimated may be sensitive to the accuracy of the diagnosis and how the data were collected.

Animals↗
PubMed2006

Type 2 diabetes and inheritance: what information do diabetes organizations provide on the Internet?

AIMS: The worldwide epidemic of Type 2 diabetes necessitates preventive actions. Providing information to high-risk populations is key. In an international comparison of websites, we aimed to investigate the presence and quality of information provided by diabetes organizations on inheritance of Type 2 diabetes and the benefits of a healthy lifestyle targeted at those with a family history or belonging to a specific ethnic population. METHODS: All websites included in the International Diabetes Federation member list in English, German, French, Dutch, Spanish, Portuguese, Swedish, Norwegian, Finnish, Danish and Japanese were included for assessment. Using qualitative content analysis, we reviewed 34 websites which provided health-related information on diabetes. RESULTS: Most websites mention family history as a risk factor. However, an explanation of the interaction of lifestyle factors and increased genetic susceptibility is lacking. Ethnicity is mentioned in only half of the sites describing risk factors. Although most websites do provide information on the importance of a healthy lifestyle, they do not address specific high-risk groups. Only two websites encourage Type 2 diabetic patients to inform family members of the familial character of diabetes. CONCLUSIONS: Information on inheritance of Type 2 diabetes and prevention specifically targeted at high-risk groups on the Internet by diabetes organizations is often of poor quality or indeed is lacking. Efforts should be made to disseminate information on heredity of Type 2 diabetes and preventive options to the general public and high-risk populations.

Databases, Factual↗
PubMed2006

Parental obesity and overweight affect the body-fat accumulation in the offspring: the possible effect of a high-fat diet through epigenetic inheritance.

The prevalence of obesity in adults has been rising continually, as has the prevalence of childhood obesity, and a large number of epidemiological studies have demonstrated a direct relationship between parental obesity and childhood obesity. In this paper, we review the effect of diet, the intrauterine environment, and the genetic inheritance on obesity. We described a study in detail that used experimental animals as a model to investigate the effect of a parental high-fat diet on body-fat accumulation in their offspring. Fertilized eggs were transplanted in that study, and body-fat accumulation in the offspring of the parents fed a high-fat diet was found to be greater than in the offspring of the parents fed a low-fat diet, even when the experimental conditions were the same in the intrauterine and subsequent environment. The results suggested that a parental high-fat diet before intrauterine developmental stage may increase body-fat accumulation in the offspring. We discuss the possibility that parental diet may influence the lifelong health of offspring and epigenetic inheritance may be occurred.

Adult Children↗
PubMed1979

A two-locus model for the inheritance of a familial disease.

A model for the inheritance of a disease involving genes at just two linked loci is presented and discussed. One of the two pairs of opposite double homozygotes is assumed to lead to the disease and death. The other genotypes are assumed to be less fit than the double heterozygote. The cause of this reduced fitness may or may not be due to the disease. Conditions for the existence of a stable equilibrium are presented. The model has a sound biological basis and could be used to explain a wide range of disease frequencies and patterns of inheritance. Mutation is not required to explain why the disease persists in the population. Recurrence risks for sibs and twin concordance rates are derived and the consequences of the relaxation of selection against those with the disease are predicted. The effects of a selection model of the kind described on the amount of linkage disequilibrium in the population and on the estimation of the frequency of recombination are discussed.

Chromosome Mapping↗
PubMed1986

Inherited electrophoretic variants detected in a Japanese population with two-dimensional gels of erythrocyte lysates.

Genetic variation has been studied in erythrocyte lysates from 100 Japanese children and their parents by means of two-dimensional polyacrylamide gel electrophoresis. Fifty-five polypeptides selected without respect to variability were considered suitable for scoring. Genetic variation was encountered in 14 of these polypeptides. Family data show that the segregation of 13 variants is consistent with an autosomal codominant mode of inheritance; the remaining variant exhibits a sex-linked mode of inheritance. Of 8 presumably identical polypeptides found variable in Japanese and/or Caucasians, differences in the occurrence or allele frequencies of polymorphisms were recognized for four. Contrary to the experience of some investigators, the amount of variation and the ethnic differences we are encountering indicate that two-dimensional polyacrylamide gel electrophoresis is a sensitive tool for the study of genetic events.

Alleles↗
PubMed2005

Inheritance and recombination of mitochondrial genomes in plants, fungi and animals.

It is generally assumed that mitochondrial genomes are uniparentally transmitted, homoplasmic and nonrecombining. However, these assumptions draw largely from early studies on animal mitochondrial DNA (mtDNA). In this review, we show that plants, animals and fungi are all characterized by episodes of biparental inheritance, recombination among genetically distinct partners, and selfish elements within the mitochondrial genome, but that the extent of these phenomena may vary substantially across taxa. We argue that occasional biparental mitochondrial transmission may allow organisms to achieve the best of both worlds by facilitating mutational clearance but continuing to restrict the spread of selfish genetic elements. We also show that methodological biases and disproportionately allocated study effort are likely to have influenced current estimates of the extent of biparental inheritance, heteroplasmy and recombination in mitochondrial genomes from different taxa. Despite these complications, there do seem to be discernible similarities and differences in transmission dynamics and likelihood of recombination of mtDNA in plant, animal and fungal taxa that should provide an excellent opportunity for comparative investigation of the evolution of mitochondrial genome dynamics.

Animals↗