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At least 127 records · Page 7Linked to original sources
PubMed1980

Inheritance of endothelial dystrophy of the cornea.

64 families containing a proband with corneal endothelial dystrophy were examined in order to study the hereditary nature of the disease. Data concerning the frequency of occurrence, severity of the disease, ratio of affected females to males, relationship of the disease with age, and other factors were the subject of a previous report. 7 pedigrees which reflect features of endothelial dystrophy within the 64 families are presented. These features include multiple females in a family being affected, multiple consecutively affected generations, the occurrence of offspring with disease more severe than the parent, and endothelial decompensation (edema) at a relatively young age (less than 40 years of age). The importance of examining family members whenever possible rather than relying on history alone is emphasized. A statistical analysis of the inheritance pattern was performed. Endothelial dystrophy does not seem to follow a strict autosomal dominant pattern even though superficial inspection suggests autosomal dominant inheritance (both males and females affected, successive generations affected, 38% of relatives over the age of 40 years affected). Even though we were unable to determine a specific genetic mode of inheritance in these 64 families with endothelial dystrophy, we do feel that endothelial dystrophy is at least in part an inherited disease. Future investigations might prove sex-linked dominance, genetic heterogeneity, the influence of environmental factors, or a multifactorial etiology.

Adult↗
PubMed1991

Familial spinal neurofibromatosis: clinical and DNA linkage analysis.

We studied two families with an unusual variant of neurofibromatosis (NF). The first family had spinal neurofibromas and café au lait spots (CLS), the second spinal neurofibromas without CLS. Other signs of NF1 or NF2, such as cutaneous tumors, Lisch nodules, or acoustic tumors, were absent. The inheritance pattern in both pedigrees was consistent with autosomal dominant inheritance. Using genetic linkage analysis with DNA markers tightly linked to the NF1 and NF2 loci, we determined that the likely location for the mutation in the first family was in the NF1 gene with odds of 97:1, whereas the mutation in the second family was excluded from the NF1 locus with odds greater than 100,000:1. Families such as these, in which a defined subset of the NF phenotype is passed on, are important for understanding the functional consequences of particular mutations in the NF genes.

Adolescent↗
PubMed1992

An epidemiological study of febrile seizures with special reference to family history and HLA linkage.

One hundred and forty four cases of febrile seizures, 95 simple (typical) and 49 complex (atypical); were studied and compared for clinical and epidemiological data and family history of febrile and afebrile seizures. Major results were: maximum age of onset below three years (75%) in both simple and complex groups, male preponderance, respiratory infection as the commonest etiology (69.4%) and maximum seizure onset within 24 hours of fever (73%). The familial prevalence of all seizures was 29.1%, 23.2% in the simple and 40.8% in the complex group (p < 0.01). The familial prevalence of febrile seizures was 20%; similar in both groups. The familial prevalence of afebrile seizures was 13.9%; 6.3% in simple and 28.6% in complex group (p < 0.01). The commonest relative was a sibling (13.2%). The prevalence in parents was 4%. Families with two additional members with history of seizures revealed complex seizure patterns in two-thirds of index cases. There was no correlation between family history of seizures and age at onset or sex. No clear inheritance pattern emerged and polygenic inheritance is likely. One third of eighteen families had siblings with identical segregation of parental HLA-A and B haplotypes. Five families showed the presence of HLA All. This small though adequate sample size did not reveal an HLA marker for febrile seizures.

Child, Preschool↗
PubMed1982

Genetics of lattice degeneration of the retina.

First-degree relatives of proband patients with lattice degeneration of the retina revealed a significantly higher prevalence of the disease than the prevalence in the general population: the former had the disease about three times as frequently as the latter. The observed data were analyzed in terms of their accordance with recognized genetic models. The inheritance pattern did not fit well to a monogenic mode of inheritance, and it was hypothesized that a polygenic or multifactorial mode of inheritance is the most likely for lattice degeneration of the retina.

Adolescent↗
PubMed1986

Genetic study on ossification of posterior longitudinal ligament.

Family studies and blood grouping tests were conducted in an attempt to elucidate the etiology and genetic mechanism of ossification of posterior longitudinal ligament of the spine (OPLL). Analysis of the collected date revealed the following results: Testing of inheritance pattern Fitness of OPLL to the hypotheses of simple recessive inheritance, simple dominant inheritance and multifactorial inheritance was tested, but fitness to any one of these hypotheses was statistically denied. Analyses of OPLL and genetic markers A comparative study was made between the OPLL patients and healthy donors residing in Tokyo on the phenotype frequency of the blood groups (eight systems), serum groups (six systems) and red cell enzyme groups (three systems). A significant association of OPLL with MN blood groups, Hp types and PGM1 types was observed. Examination of the correlation after combining MN and Hp showed the coefficient of contingency to be C = 0.6739 and that after the multiple combination of MN, Hp and PGM1 revealed the coefficient of contingency to be C = 0.8923, indicating a remarkably high correlation.

Adult↗
PubMed1990

Stargazer: a new neurological mutant on chromosome 15 in the mouse with prolonged cortical seizures.

We report here the initial description of the inheritance pattern, linkage mapping, and electroclinical phenotype of a recessive mutation on mouse Chromosome 15, stargazer (stg), that produces epilepsy. The salient epileptic phenotype is a syndrome of spontaneous, prolonged, generalized spike-wave cortical discharges with behavioral arrest. A second, complex, seizure pattern featuring movements during the discharge can also appear. The stg/stg mutant phenotype confirms the general principal that inherited epilepsies sharing similar cortical excitability patterns can be transmitted by single gene loci residing on different chromosomes and provides new evidence that the severity of seizure expression depends on the specific mutant gene affected.

Animals↗
PubMed1988

Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia.

A family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before. The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial-like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles. The inheritance pattern is most likely autosomal dominant, although X-linked dominant inheritance cannot be excluded.

Adult↗
PubMedDate not supplied

Isozymes in androgenetic and gynogenetic white amur, gynogenetic carp, and carp-amur hybrids.

Gynogentic and androgenetic progeny appeared in crosses between white amur, Ctenopharyngodon idella, and carp, Cyprinus carpio. Hemoglobin, plasma general proteins, and plasma isoenzymes were studied by electrophoresis to determine inheritance patterns. Electrophoretic bands indicated that gynogenetic white amur had no paternal inheritance from carp and that adrogenetic white amur also were pure white amur. Gynogeneiss in carp was confirmed by the absence of paternal inheritance. Hemoglobins, general proteins, and esterases distinguished the two species. Within a species there were no differences in proteins between gynogenetic, adrogenetic and normal fish. Lactate dehydrogenase (LDH) differed between carp and white amur and was a good marker for detecting heterologous inheritance in adrogenesis or gynogenesis because expression of LDH alleles from white amur was inhibited by the carp genome. Alkaline phosphatase and malate dehydrogenase had similar electrophoretic mobility in the two species.

Alkaline Phosphatase↗
PubMed1989

Familial koilonychia.

Koilonychia is a well-recognized clinical sign of iron deficiency occurring either with or without anemia. A case of familial koilonychia with an inheritance pattern consistent with an autosomal dominant trait is presented. Comments on inherited koilonychia and other causes of koilonychia are also included. The possible causes of the nail disorder are discussed.

Anemia, Hypochromic↗
PubMed1983

Diagnosis and classification of severe combined immunodeficiency disease.

The failure to demonstrate normal humoral and cell-mediated immunity (CMI) in patients diagnosed as SCID is seen to reflect the varied pathogenesis of this syndrome. Two major groups of patients have been described, those with or without an associated absence of the enzyme ADA. The heterogeneity of the syndrome is expressed in variable inheritance patterns (particularly defined X-linked or autosomal recessive modes of inheritance), differing clinical presentations, and significant variability in laboratory findings. Some of this heterogeneity of laboratory findings may in fact be contributed to by the high incidence of infection or engraftment of maternal cells in utero. Common to all, however, is the profound deficiency of functional attributes of humoral and cell-mediated immunity. Insight into the biology of this immunodeficiency has advanced steadily in the last decade. Although initially hypothesized to represent a primary lymphoid stem-cell defect, newer technologies to identify and enumerate lymphocyte subpopulations and precursor lymphocytes have revealed the complexity of the disorder. This complexity may now be attributable to a number of abnormalities in the quantitative and qualitative differentiation of these lymphoid stem cells. Functional differentiation of lymphocytes is the result of a progressive and orderly sequence of events. In SCID, lymphocytes of both lineages may be arrested at specific and identifiable stages of maturation, leading to a deficiency of cell-mediated and humoral immunity. In many patients with SCID, the combined immune deficiency may be linked solely to a failure in the stepwise progression of T-cell differentiation.

Acute Disease↗
PubMed1987

Pattern dystrophy of the retinal pigment epithelium.

We describe six related patients presenting with an autosomal dominantly inherited pattern dystrophy of the retinal pigment epithelium, significantly abnormal electro-oculogram and minor colour vision abnormalities. There is a continuum of variable phenotypic expression within the pattern dystrophies of the retinal pigment epithelium.

Adolescent↗
PubMed1988

Problems of genetic model testing in early onset periodontitis.

Familial aggregation of early onset or juvenile periodontitis (JP), a disorder that varies in expression and age of onset, has been recognized for some time. Autosomal recessive and X-linked inheritance patterns have been suggested, and one large pedigree has demonstrated autosomal dominant inheritance. The variability and age limitations in clinical phenotypic diagnosis present several problems to genetic analysis, because information on members of the youngest and older generations may be lost to the analysis. The purpose of the present study was to elucidate the genetic basis of JP by formal pedigree analysis and comparison of competing genetic models. Twenty-eight families were included, with general and specific autosomal models, and an X-linked model being compared. The autosomal recessive model provided the most parsimonious explanation of the data, and its likelihood was not significantly different from the more general model. Likelihoods for the sporadic (nongenetic) and X-linked models were considerably lower than the autosomal models. While comparison of genetic models suggests recessive inheritance of JP, the serious complications to pedigree analysis posed by limitations warns against acceptance of this conclusion, without more exhaustive evaluation of: (1) a more extensive collection of family data, (2) more complete investigation of the effects of age limitations on comparisons among competing models, and (3) elucidation of the importance of diagnosis and phenotype assignment of adults through past dental records.

Adult↗
PubMed1990

Enzyme heterogeneity in the porphyrias.

The use of immunological methods for measuring enzyme mass has identified several varieties of porphyria in which the reduction of porphyrin enzyme activity is not accompanied by a corresponding change in the enzyme mass. Currently, acute intermittent porphyria and hepatoerythropoietic porphyria have exhibited this phenomenon. In porphyria cutanea tarda, it has recently been shown that the pattern of enzyme deficiency in erythrocytic and nonerythrocytic tissues does not strictly follow the inheritance pattern (familial and sporadic) previously described. Also, contrary to previous dogma, some cases of type 1 porphyria cutanea tarda appear to be positive for cross reactive immunological material (CRIM).

Humans↗
PubMed1980

A study of a myopathy presenting as idiopathic scoliosis. Multicore disease or mitochondrial myopathy?

Seven cases from a family with a myopathy categorized as "multicore disease" are presented. The clinical picture is unusual because of the predominant progressive involvement of the axial skeletal muscle, with scoliosis and disproportionate respiratory failure as the major clinical features. The propositus and his cousin have both suffered from scoliosis without limb weakness. There is a possibility that this myopathy may be responsible for some cases regarded as idiopathic scoliosis, especially idiopathic infantile scoliosis. The clinical picture is highly variable, and there are sub-clinical cases. The inheritance pattern is consistent with either autosomal dominant, sex-linked recessive or extra-chromosomally inherited disease. Electron microscopy revealed mitochondrial abnormalities, which may have resulted in the Z-disc pathology.

Adolescent↗
PubMed1983

A family study of vitiligo patterns.

The anatomical distribution of vitiligo has been studied in families with evidence of organ-specific autoimmune disease. No examples of similar pattern inheritance were found in first degree relatives in contrast to published reports of similar vitiligo patterns in identical twins. The genetic predisposition to develop vitiligo apparently allows for a diversity of anatomical pattern. A similar mechanism may be responsible for the occurrence of different organ-specific autoimmune diseases in members of the same family.

Adolescent↗
PubMed1989

Inheritance of spatial learning ability in inbred mice: a classical genetic analysis.

The inheritance of spatial learning ability in inbred mice was examined by performance of a classical genetic cross between the 2 inbred strains C57BL/6Ibg and DBA/2Ibg. The inbreds were crossed to produce the 1st filial generation (F1) hybrids. F1 mice were bred to each other and were backcrossed to the parental strains to produce 3 hybrid generations with recombinant genotypes. The animals were tested for spatial learning ability in the Morris water task. All hybrid generations showed greater spatial learning ability than the inbreds, with F1 hybrids showing the greatest degree of spatial learning. The inheritance pattern for spatial learning differed between male and female mice, with males showing a type of inheritance in which dominant genes made the major contribution to the expression of the behavior. Females showed equal contributions of dominance deviation and additive genetic effects. The results are discussed in terms of fitness value to the animals.

Animals↗
PubMed1989

Neurological progress. The neuronal ceroid lipofuscinoses: a review.

Neuronal ceroid lipofuscinosis is a common cause of neurodegenerative disease in children. The disease is characterized by visual failure, seizures and dementia. The presence of cortical atrophy by computerized axial tomography and distinctive ultrastructural findings by skin biopsy, together with a suggestive clinical course and neurophysiologic abnormalities, lead to a diagnosis. Presently four subtypes and rare atypical forms are recognized: the infantile, late infantile, juvenile and adult or Kufs variants and atypical early juvenile and protracted juvenile types. The inheritance pattern is autosomal recessive in all subtypes with some of the adult cases representing autosomal dominant inheritance. The biochemical characterization of this disorder is just beginning. There is some evidence to implicate overglycosylation of proteins as playing a role in pathogenesis. Further biochemical description coupled with linkage analysis techniques using DNA probes are needed to develop a better understanding of this group of disorders.

Humans↗
PubMed1989

Definition and properties of disequilibria within nuclear-mitochondrial-chloroplast and other nuclear-dicytoplasmic systems.

We define and determine the interrelationships among five sets of disequilibrium parameters that measure two- and three-locus nonrandom associations in nuclear-dicytoplasmic systems. These assume a diploid nuclear locus and two haploid cytoplasmic loci, with special reference to nuclear-mitochondrial-chloroplast systems. Three sets of two-locus disequilibria measure the association between haplotypes at the two cytoplasmic loci (DMC) and associations between each cytoplasmic locus and nuclear alleles or genotypes (DM, D1M, D2M, D3M; DC, D1C, D2C, D3C). In addition, we present two classes of higher-order disequilibria that measure nonrandom allelic or genotypic associations involving all three loci. The first class quantifies associations between the nuclear locus and the two cytoplasmic loci taken jointly (DA/MC, DAA/MC, DAa/MC, Daa/MC, etc.), whereas the second measures only those associations remaining after all two-locus associations have been taken into account (DA/M/C, DAA/M/C, DAa/M/C, Daa/M/C). Based on combinations of these five sets of measures, we suggest a variety of parameterizations of three-locus, nuclear-dicytoplasmic systems. The dynamics of these disequilibria are then investigated under models of random and mixed mating, either with both cytoplasmic genomes inherited through the same parent or through opposite parents. Except for associations between the cytoplasmic haplotypes, which are constant when the two cytoplasmic genomes are inherited through the same parent, all disequilibria ultimately decay to zero. These randomizations do not necessarily occur monotonically, however, and in some cases are preceded by an initial increase in magnitude or sign change. For both inheritance patterns, the asymptotic decay rates are steadily retarded by increasing levels of self-fertilization. This behavior contrasts with that in the extreme case of complete selfing, for which only the heterozygote disequilibria always decay to zero. For all models considered, the dynamics of the two-locus cytonuclear subsystems are solely a function of the mating system, whereas the dynamical behavior and sign patterns of the cytoplasmic and three-locus disequilibria also depend strongly on the mode of cytoplasmic inheritance.

Cell Nucleus↗