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PubMed1990

Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.

The results of segregation analysis applied to a family study of idiopathic torsion dystonia in Ashkenazi Jews are reported. The study is based on 43 probands (with age at onset prior to 27 years) from 42 nuclear families; pedigrees were extended systematically through all available first- and second-degree relatives, who were directly examined and videotaped. Final diagnoses were based on exam information and blinded videotape review. Segregation analysis demonstrated that the data are consistent with autosomal dominant inheritance with 30% penetrance. Recessive and polygenic inheritance were strongly rejected. There was no evidence for sporadic cases or new mutations. The high incidence and dominant inheritance of early-onset idiopathic torsion dystonia in Ashkenazi Jews suggests genetic homogeneity within this population, making it especially useful for linkage studies of this disorder.

Adolescent↗
PubMed1989

[The inheritance of congenital nasolacrimal duct stenosis].

The incidence of congenital nasolacrimal duct stenosis in 587 neonates surveyed was found to be 0.17%, while a familial investigation of 100 consecutive patients revealed the incidence of the first, second and third degree relatives were respectively 2.32%, 0.95%, and 0.45%; the obvious differences of incidence (P less than 0.05) indicated an apparent genetic involvement. 86 of the 100 patients were sporadic, and the pedigree study of 14 patients with positive family history did not produce sufficient evidence of autosomal dominant, recessive, or sex-linked inheritance. In conclusion, the mode of inheritance of the disease was thought to be multigenic and the inheritability calculated to be 58%.

Female↗
PubMed1989

On the development of biologically specific beliefs: the case of inheritance.

5 experiments investigated children's intuitions about genetic transmission of features. After parent animals possessing an abnormal feature were described, children were asked whether their baby would be born with that feature in abnormal or normal form. Features were either internal or external, inborn or acquired after birth, and had functional or nonfunctional consequences for the parents. Among preschoolers, features with functional consequences were considered inherited much more frequently than any other type, but only when the functional consequences were biological rather than social or psychological. Older children demonstrated more awareness of the inheritance of inborn traits. Overall, the results suggest young children have principled, specifically biological notions of inheritance.

Child↗
PubMed1989

Parental inheritance and psychological disability in fragile X females.

Studies of adult female carriers of the fragile X chromosome indicate that certain psychological problems occur with a greater frequency and severity than expected. This study examines the association of parental origin of the fragile X chromosome and of fragility detected in the karyotype with measures of social, educational, and psychological functioning in a group of adult fragile X females of normal intelligence. The results show that, as a group, women who inherit the fragile X chromosome from their mother and who demonstrate positive fragility in the karyotype (MI+ group = [maternal inheritance with positive fragility]) manifest significantly more impairment of social, educational, and psychological functioning when compared with fragile X females with paternal inheritance or negative fragility or with a matched control group comprising non-fragile X women. In particular, MI+ women show lower levels of both educational achievement and socioeconomic status and a greater degree of disturbance in communication, socialization, affect, and thought processes. These clinical findings are consistent with the recently advanced hypothesis which proposes that a two-stage process leading to chromosome imprinting in a preoogonial cell causes the fragile X syndrome.

Anxiety Disorders↗
PubMed1978

Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis.

Amyloid fibrils isolated from two patients, one with inherited systemic amyloidosis and lattice corneal dystrophy, and the other with secondary amyloidosis due to chronic glomerulonephritis, were studied using immunologic, electrophoretic and chromatographic techniques. Amino acid hydrolysates of both amyloid types showed a high proportion of acidic and aliphatic amino acid residues but were non-identical in the overall amino acid composition. The preparations also contained 12--16% lipids. Guanidine hydrochloride denaturated amyloid fibrils of both types were resolved into four fractions in Sepharose 6B chromatography with molecular weights of ca. 160 000, 45 000, 20 000 and 8 000. The 160 000 mol. wt. fraction predominated in the chromatograms of inherited amyloid protein and was further resolved into two main fractions of 17 000 and 15 000 mol. wt. in sodium dodecyl sulfate (SDS) polyacrylamide gel electrophoresis. None of these fractions from inherited amyloid protein showed immunologic identity with tissue-derived amyloid protein A (AA) whereas all four fractions from secondary amyloid reacted against anti-AA antiserum. The three major Sepharose 6B fractions of secondary amyloid fibrils were resolved into a 25 000 mol. wt. fraction in SDS-polyacrylamide gel electrophoresis without urea but into a 12 000 mol. wt. fraction in gels containing 8M urea after more drastic dissolving conditions of the fibrils.

Adult↗
PubMed1988

Distinct variants of erythrocyte protein 4.1 inherited in linkage with elliptocytosis and Rh type in three white families.

Hereditary elliptocytosis is a heterogeneous disorder resulting from defects in the erythrocyte membrane skeleton. Although some cases of elliptocytosis result from defects in spectrin, the specific structural abnormality has yet to be identified in the majority of cases. Protein 4.1 plays an essential role in erythrocyte membrane physiology, and deficiencies have been implicated in only a few rare cases of elliptocytosis. By using 4.1 immunoblots and a 4.1 radioimmunoassay we identified distinct variants of protein 4.1 in 15 elliptocytic members of three US white families with the Rh-linked form of elliptocytosis. Elliptocytic members of family G were heterozygotes for a low-molecular weight (mol wt) 4.1 variant (65,000 to 68,000 daltons; normal, 80,000) inherited in linkage with the Rz phenotype. Elliptocytic members of family C expressed a simple partial deficiency of protein 4.1 (63% of the normal level) that was inherited in linkage with the r phenotype. Elliptocytic members of family N were heterozygotes for a high-mol wt 4.1 variant (100,000 daltons) also inherited in linkage with the r phenotype. These studies indicate that mutant forms of protein 4.1 are not uncommon in elliptocytosis among whites and that different kindreds probably express different mutations. The observed linkage of elliptocytosis and Rh blood type most likely results from the close proximities of the 4.1 gene (site of the mutation) and the Rh gene, which is located nearby on the short arm of chromosome 1.

Adult↗
PubMed1988

Hypertension and sodium-lithium countertransport in Utah pedigrees: evidence for major-locus inheritance.

Likelihood analysis was used to test for evidence that an allele at a major locus elevates rates of sodium-lithium countertransport (SLC) in a sample of 1,989 members of 89 Utah pedigrees. The pedigrees were ascertained through two or three sibs who died of stroke before age 74 years (stroke pedigrees), through hypertensive and normotensive probands of the Salt Lake Center of the Hypertension Detection and Followup Program (HDFP pedigrees), or through men who suffered a myocardial infarction before age 55 years (coronary pedigrees). Major-locus inheritance could be rejected in the total sample; transmission probability estimates of tau1 = .972, tau2 = .520, tau3 = .185 differed significantly from Mendelian transmission specified by tau1 = 1, tau2 = 1/2, tau3 = 0. However, heterogeneity between ascertainment groups was significant (chi2(18) = 40.06, P less than .01) and justified analysis within subsets of the sample. In the stroke pedigrees, evidence of major-locus inheritance was not found; polygenic heritability was estimated as .647. In the HDFP pedigrees, estimates of tau1 = .987, tau2 = .430, tau3 = .506 differed significantly from Mendelian transmission; the inferred model consisted of a mixture of two distributions incompatible with both Mendelian and environmental transmission but compatible with polygenic inheritance within distributions. In the coronary pedigrees, the hypothesis of Mendelian transmission could not be rejected. In the coronary pedigrees, the evidence supported an incompletely recessive allele with a frequency of .227 which elevated the level of SLC to a mean of .530 mmol/liter RBC/h.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1988

Autosomal dominant inheritance of the DeMyer Sequence.

Holoprosencephaly (HPC) may be an isolated trait or may be associated with other craniofacial defects. As an isolated trait, HPC has been reported to be inherited as an autosomal recessive, while autosomal dominant inheritance has been reported for sequences or syndromes in which HPC occurs. This paper presents a family in which several people have variable combinations of craniofacial defects. The most severely affected relatives have HPC, while others have only mild facial dysmorphia and decreased bitemporal diameters. One relative has a single central incisor in the maxilla. The pattern of defects in this family is inherited as an autosomal dominant. Other families with the reported pattern of defects, including single central incisors as minimal manifestations, are cited. Because HPC is found only occasionally in the pattern of defects, the term DeMyer Sequence is proposed as a more appropriate designator than the more commonly used Holoprosencephaly Sequence.

Abnormalities, Multiple↗
PubMed1988

Hereditary poikilocytic anemia associated with the co-inheritance of two alpha spectrin abnormalities.

This report describes a black family in which two distinct structural defects of alpha spectrin were inherited singly and in combination. The propositus, who has a poikilocytic hemolytic anemia that shares many of the features of hereditary pyropoikilocytosis (HPP) or homozygous elliptocytosis, is a compound heterozygote for both the spectrin alpha 1/65 and spectrin alpha 1/50a defects as demonstrated by electrophoretic analysis of spectrin tryptic fragments. The spectrin alpha 1/65 defect alone was found in his mother and sibling, while the spectrin alpha 1/50a defect was present in the father and another sibling. The red cell spectrin content was normal in all family members. The functional consequences of inheritance of these two spectrin defects were compared with those found in an unrelated patient with classic HPP who had the alpha 1/50a spectrin defect and was spectrin deficient as well. Prolonged incubation at 37 degrees C resulted in striking budding, fragmentation, and sphering of classic HPP red cells but only minimal changes in propositus cells. The percentage of spectrin dimers was increased tenfold in classic HPP, sevenfold in the propositus, and threefold in other family members. Mechanical stability of erythrocyte ghosts, measured by ektacytometry, was reduced severely in both classic HPP and in the propositus, but only moderately in other family members. Thus, co-inheritance of two alpha spectrin defects can result in a poikilocytic hemolytic anemia milder than that usually found in HPP. The greater clinical severity of HPP may be a consequence of the presence of spectrin deficiency, a finding absent in the propositus.

Adult↗
PubMed1988

Reading disability with motor problems may be an inherited subtype.

There is evidence from a number of studies that various forms of reading disability are inherited. The familial patterns of one specific type of reading disability that occurs together with impaired coordination and balance were evaluated. Ten reading-disabled children with these motor problems, ten children with only reading problems, and ten control children without reading disabilities were examined along with their siblings and parents. The control children were matched to the reading-disabled children for age, sex, and family socioeconomic status. A high prevalence of reading and motor problems was found in the relatives of the children with reading disability and motor problems, whereas a high prevalence of only reading problems was found in the relatives of the children with only reading disability. There were no differences among the three groups of children or their siblings on number of pregnancy and birth complications or prevalence of attention deficit disorder. It was concluded that reading disability with motor problems may be an inherited type of reading disability, distinct from reading disability without motor problems, which is also inherited.

Adolescent↗
PubMed1986

Inherited disorders in the black population of southern Africa. Part I. Historical and demographic background; genetic haematological conditions.

Genetic, geographic and socio-economic diversity has resulted in disparity in the relative prevalence of many inherited disorders and congenital conditions in the populations of southern Africa. In the first section of a 3-part article an account is given of the historical and demographic background in relation to factors which influence the presence and frequency of faulty genes in the black community. In addition, inherited haematological conditions--in particular haemoglobinopathies, red-cell enzyme and membrane defects--are discussed in terms of their clinical, genetic and anthropological significance. The conditions transmitted by simple genetic mechanisms are documented in Part II, with discussion of those notable for their unusually high or low prevalence. In the final section multifactorial, chromosomal and non-genetic congenital disorders are reviewed and a number of unusual conditions of obscure aetiology are mentioned. In this 3-part overview an attempt has been made to document present knowledge and to provide a bibliography for inherited and congenital disorders in the black population.

Anemia, Sickle Cell↗
PubMed1987

Mouse thiopurine methyltransferase pharmacogenetics: monogenic inheritance.

Thiopurine methyltransferase (TPMT) catalyzes the S-methylation of aromatic and heterocyclic sulfhydryl compounds such as the drug 6-mercaptopurine. In humans, TPMT activity is inherited as a monogenic trait. It would be useful if there were an animal model in which the genetic regulation of TPMT could be studied. Average TPMT activities in livers of C57BL/6J (B6) and AKR/J (AK) mice were only 17 to 29% of average activities in livers of like-sexed DBA/2J (D2) mice. Average TPMT activities in kidneys of B6 and AK mice were only 41 to 45% of average activities in kidneys of like-sexed D2 mice. Breeding experiments were performed to study the possible role of inheritance in regulating variations in TPMT activity in these mice. TPMT activities in livers and kidneys of F1 (hybrid) animals (N = 38) from D2 X B6 matings were intermediate to those in the parental strains but were closer to D2 than to B6 values, an observation that suggested partial dominance of the D2 phenotype. The results of studies of F2 (N = 107) and backcross (N = 102) animals derived from these matings were compatible with autosomal recessive inheritance of the trait of low TPMT activity in these mouse strains. Of the F2 animals, 27.1% were included in a "low" TPMT subgroup when enzyme activities in livers and kidneys were both used for phenotypic classification. TPMT activities in livers and kidneys of F1 mice (N = 40) from D2 X AK matings were also intermediate to those in the parental strains but were closer to D2 than to AK values.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1986

Mode of inheritance of Samoyed hereditary glomerulopathy: an animal model for hereditary nephritis in humans.

The pedigree of a line of Samoyed dogs with Samoyed hereditary glomerulopathy (SHG) was investigated to determine the mode of inheritance. Sixty percent of males were affected with severe renal disease that progressed to renal failure before 15 months of age. In contrast, female carriers showed less severe involvement and their disease did not progress to renal failure. This pattern is consistent with the inheritance of an X-linked dominant gene. A similar mode of inheritance has been postulated in some families with hereditary nephritis. Further similarities between SHG in dogs and hereditary nephritis in humans have been demonstrated previously in clinical and renal morphologic studies. The present study supports the view that this line of Samoyed dogs would be an appropriate model for studying the human disease.

Animals↗
PubMed1986

Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.

Twenty-two patients with inherited hyperammonemic syndromes are presented. These patients represent 22 different families. The diagnosis was based mainly on family history, blood ammonium levels, acid base balance, urinary orotic acid, urinary and plasma amino acids and organic acids. The final diagnosis was confirmed by determination of liver enzyme activity. In 12 patients (54%), the first clinical manifestations were noticed after the neonatal period; 7 patients (31%) were diagnosed after infancy, and 8 (23%) after the age of 8 years. Two patients who represent the late-onset group of inherited hyperammonemic syndromes are presented in detail. The three most common diagnoses were ornithine transcarbamoylase deficiency, carbamoyl phosphate synthetase deficiency, and lysinuric protein intolerance, which comprised 59% of the diagnosed patients. Our data, based on one of the largest series reported, reveal a relatively large percentage of late-onset inherited hyperammonemic syndromes as compared with previous reports.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

Analysis of inherited epilepsy using single locus mutations in mice.

The neurological expression of mutations at defined gene loci in isogenic mice provides a singular opportunity to investigate the developmental pathophysiology of inherited central nervous system (CNS) diseases. Analysis of the single locus mutants that are currently available shows that CNS diseases that include spontaneous seizures as symptoms can be inherited as simple recessive traits. Mutant gene dose is highly correlated with the spontaneous occurrence of seizures. Single gene defects at one of multiple chromosomal loci may give rise to similar epileptic patterns. One mutation, tottering (tg, chromosome 8, recessive) produces in young mice a focal motor seizure pattern with a somatotopic progression, and behavioral absence seizures accompanied by abnormal bursts of bilaterally synchronous, spike-wave discharges in the electrocorticogram. Spontaneous electrographic and clinical seizures of this general pattern bear close resemblance to common forms of human epilepsy. Defined alterations in restricted neuronal pathways of the mouse brain produced by single locus mutations can be used to infer general principles of inherited epileptogenesis, and may provide specific biological test systems for the development of more selective chemical antagonists of seizure activity.

Animals↗
PubMed1986

Altered biochemical properties of actin in normal skin fibroblasts from individuals predisposed to dominantly inherited cancers.

The data presented here show that normal skin fibroblasts from individuals with dominantly inherited retinoblastoma, polyposis coli, and nevoid basal cell carcinoma (predisposed cells), grown in the presence of [35S]methionine, contain more than 2.5-fold [35S]methionine-labeled actin as compared to normal fibroblasts from individuals without a prior history of predisposition to cancer (normal cells). The rate of incorporation of [35S]methionine into actin in predisposed cells is rapid and is not correlated with an increase in the total protein and actin contents of the cells, in the intracellular pool size of [35S]methionine, or in the synthesis of beta-actin-specific mRNA, as compared to normal cells. However, the half-life of actin in predisposed cells is less than 5 h, as compared to at least 48 h for normal cells. The significantly reduced half-life of actin and an increased incorporation of [35S]methionine specifically into actin in all predisposed cells studied may represent an inherited biochemical defect which leads to cytoskeletal disorganization previously observed in these cells. It can be speculated that the altered properties of actin in predisposed cells may be caused by the same genetic lesion(s) which is responsible for the induction of dominantly inherited cancers.

Actins↗
PubMed1986

Reevaluation of cytochrome b and flavin adenine dinucleotide in neutrophils from patients with chronic granulomatous disease and description of a family with probable autosomal recessive inheritance of cytochrome b deficiency.

Chronic granulomatous disease (CGD) is a genetically heterogeneous syndrome characterized by a microbial killing defect of polymorphonuclear leukocytes (PMNs) due to lack of superoxide O2-. 2 generation. Recent studies indicate that the neutrophil O2-.-generating system consists of at least two components, flavoprotein--flavin adenine dinucleotide (FAD)--and cytochrome b. We evaluate the cytochrome b and FAD content in PMN from 30 CGD patients. The method for quantitating cytochrome b was modified by using PMN sonicates incubated with azide plus hydrogen peroxide. With this approach, several absorption peaks corresponding to myeloperoxidase and eosinophil peroxidase, which overlap with peaks of cytochrome b, were obliterated from reduced-minus-oxidized spectra, whereas the peaks of cytochrome b were not and could be readily quantitated. Cytochrome b was detected in PMNs from all 24 normal adults (47.4 +/- 2.9 pmol/7.5 X 10(6) cells), was absent in PMNs from 11 male CGD patients and one female CGD patient but was present in normal amounts in PMNs from nine male and nine female CGD patients. Stimulated nitroblue tetrazolium (NBT) tests performed on PMNs from mothers of CGD patients indicated that cytochrome b deficiency was associated with X-linked inheritance, except in one case in which probable autosomal recessive inheritance was demonstrated. The PMN NBT test of the mother of another male patient without cytochrome b deficiency suggested an X-linked form of inheritance. In related studies, the FAD content in PMN particulate fractions was reduced in 4 of 28 CGD patients studied. All four CGD patients with reduced FAD lacked cytochrome b. However, three patients with cytochrome b deficiency had normal FAD. Thus, the results indicate that PMN cytochrome b deficiency is observed in most X-linked and in some autosomal recessive CGD, that cytochrome b deficiency may be associated with FAD deficiency, and that cytochrome b and FAD are normal in most patients with non-X-linked CGD.

Adult↗
PubMed1979

Dominantly inherited cystoid macular edema.

Four patients of Greek ancestry had dominantly inherited cystoid macular edema. Characteristics of this syndrome include the following: an early onset and prolonged course of cystoid changes in the macula, followed by atrophy of the macula in later stages. Some patients also show leakage of fluorescein from the optic disc capillaries, subnormal EOG Lp/Dt ratios, elevated rod dark adaptation thresholds, red-green and blue-yellow color deficiencies, normal ERG findings, hyperopia, peripheral pigmentary retinopathy, and vitreous opacities. Dominantly inherited cystoid macular edema is a distinct genetic trait among the dominantly inherited macular dystrophies.

Adult↗