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PubMed1992

Diversity and pattern of inheritance of autoantibodies in families with multiple cases of systemic lupus erythematosus.

The pattern of inheritance of autoantibodies in eight families chosen from a pool of 110 families of patients with systemic lupus erythematosus (SLE) is described. In all the eight families at least two members were already affected by SLE. In total, 19 patients and 43 first degree relatives were examined. The inheritance of a large set of antinuclear antibodies (for example, DNA, Sm, RNP, Ro, La, histones) and 16/6 idiotype seemed to be related to some unknown genetic factors but not related to HLA. The presence of numerous antinuclear autoantibodies in the serum of a subject was not necessarily associated with overt disease. The incidence of the 16/6 idiotype among patients and their relatives was low. It is not yet clear whether the 'autoantibody burden' is greater in families with multiple cases of SLE than in families with single cases.

Antibody Diversity↗
PubMed1989

Microradiographic study of amelogenesis imperfecta.

A material of 22 primary and 4 permanent teeth from 22 children with amelogenesis imperfecta (AI) were examined by microradiographic techniques. The children were part of a patient material earlier examined in genetical and clinical studies. The results were compared with corresponding data two non-affected control groups and correlated with the available clinical and genetical data. Teeth were examined from seven of the eight different variants of AI seen in the clinical study. In most cases both hypoplasias and areas of hypomineralization were observed in the same tooth, indicating that both the secretory and the maturation phases of the amelogenesis are affected in AI. In teeth from children with the same clinical variant but different inheritance patterns, no specific finding could be related to a specific inheritance pattern. The findings in the one boy with AI as an X-linked trait were unique in this material. In all control teeth except one, no hypoplasisas or areas of hypomineralization were found in the enamel. In conclusion, the subclassification of AI into different forms can be questioned. Variations in clinical and histologic characteristics connected with the same inheritance pattern suggest that the genetic defect, in conjuction with a large biological variation, could explain the multiplicity in clinical expressivity that characterizes AI.

Amelogenesis Imperfecta↗
PubMed1985

Dominant inheritance of adenomatous colonic polyps and colorectal cancer.

Except in the rare polyposis syndromes, the contribution of heritable factors to the genesis of colorectal cancer and adenomatous polyps is not well understood. We examined the inheritance of susceptibility to colonic polyps and cancer in a large Utah pedigree with multiple cases of common colorectal cancer but no recognizable inheritance pattern among them. Inheritance was clarified, however, by systematic screening for colonic polyps in pedigree members and spouse controls, using flexible proctosigmoidoscopy. One or more adenomatous polyps were found in 21 per cent of family members (41 of 191) but in only 9 per cent of controls (12 of 132) (P less than 0.005). Pedigree analysis was performed with likelihood methods that compared random occurrence of cancer and polyps with autosomal recessive and autosomal dominant patterns of inheritance. The analysis suggested that the observed excess of discrete adenomatous polyps and colorectal cancers was the result of an inherited autosomal dominant gene for susceptibility, rather than an inherited recessive gene for susceptibility or a chance occurrence. This type of inheritance of colorectal polyps and cancer may be more common than previously recognized.

Adult↗
PubMed1991

Analysis of the patterns of inheritance of splenomegaly and serum IgM levels in the Watut of Papua New Guinea.

Hyperreactive malarious splenomegaly (HMS) reflects abnormal immune responses to malarial infection. The central question is whether HMS results from unusual patterns of malarial infection or from immune incompetence in the host. Family distributions of two features of the syndrome, splenomegaly and excessively high IgM levels, have been examined in a Papau New Guinea population in which HMS is exceptionally common. Segregation analysis of spleen grade shows that a major sex-linked gene controls hyperresponsiveness to malaria. This finding is supported by additional segregation analysis, which shows that an autosomal locus cannot account for a significant proportion of variation in spleen grade, and by path analysis, which rejects a model that assumes that parents contribute equally to the child's genotype. The sex-linked gene contributing to HMS was not mediated through sex linkage of a major gene for IgM concentrations, as shown by segregation analysis. It has yet to be determined whether this pattern of inheritance also applies to HMS occurring sporadically in other less severely affected populations. The applicability of these findings to the general variability in "normal" IgM responses to malaria also remains to be established.

Adult↗
PubMed1992

The inheritance of vertebral shape in the mouse. I. A study using Fourier analysis to examine patterns of inheritance in the morphology of cervical and upper thoracic vertebrae.

The shapes of cervical and upper thoracic vertebrae from large samples of 2 inbred strains of mice and their F1 offspring were examined using Fourier analysis to investigate in detail the distributions and magnitudes of differences in vertebral shape between different strains of mice, the relationships between parents and offspring and any differences in the inheritance of vertebral shape between successive vertebral levels. Consistent with the findings of an earlier study there was evidence for considerable differences between vertebral levels in the degree to which offspring resemble one or other parent. The results demonstrate that the inheritance of vertebral morphology conforms to a model in which F1s between inbred strains form a triangular relationship with their parents. Furthermore, this relationship varies between vertebral levels. The significance of these findings is considered in relation to the understanding of the mechanisms of character inheritance and evolution and some new directions for research into vertebral column morphogenesis are proposed.

Animals↗
PubMed1977

Applied genetics for the practicing optometrist.

A good preventive blindness program includes a strong program in genetic counseling. Optometrists can be of substantial assistance to a genetic counseling program by: 1) being informed of the various types of inherited ocular disorders, and their modes of transmission. 2) becoming aware of the presence of disorders in other members of the patient's family, and 3) encouraging the affected family members to seek genetic counseling prior to conception. This article is designed to serve as a guide for familiarizing the practicing O.D. with the various types of inheritance patterns, specific disorders which follow these inheritance patterns, and some of the ocular and systemic characteristics of the disorders. Only those anomalies of structure and/or function which have an identifiable (and therefore a predictable) genetic mode of transmission will be discussed. This article is intended to serve as a brief and general review of some of the more common ocular disorders, and not as a comprehensive text on the genetics of ophthalmic diseases. Emphasis is placed on the optometric management of each disease discussed.

Child↗
PubMed1986

Atrichia with papular lesions.

We report a case of atrichia with papular lesions in association with common variable immunodeficiency in an 11-year-old boy. There were identical findings in the patient's father. This rare variant of ectodermal dysplasia typically presents with shedding of normal fetal hair within the first three months. Eyelashes are typically spared. Numerous keratin-filled follicular cysts develop over extensive areas of the skin, usually between the age of 2 and 26 years. These lesions are most numerous on the face, neck, scalp, and extremities. Teeth and nails are entirely normal in these patients. The mode of inheritance of atrichia with papular lesions is uncertain. Our case suggests an autosomal-dominant inheritance pattern, while previous reports have shown autosomal recessive inheritance pattern.

Alopecia↗
PubMed1991

The role of dominance and epistasis in the genetic control of blood pressure in rodent models of hypertension.

Genetic analyses of crosses between hypertensive rodent models and their normotensive controls were performed on 43 sets of data published between 1970-1989. In each case, the cross involved F1, F2, and both backcross generations for a "complete genetic cross." Biometrical analysis estimated genetic parameters and their standard errors associated with dominance and epistasis (interaction of alleles that are not at the same locus). The statistical significance of these parameters was determined by comparing the parameter to its standard error. A purely additive inheritance pattern was seldom found. Additive/dominance inheritance was apparent in only two models. The prevailing pattern of inheritance was one with partial dominance for alleles for normal blood pressures and epistatic interactions. Finding epistasis in so many models will have implications for the application of cosegregation and linkage analyses in hypertension research.

Animals↗
PubMed1975

Investigation of the prevalence and inheritance of bronchial asthma in San Antonio de los Baños, Cuba.

A survey of bronchial asthma prevalence and inheritance patterns was carried out in the municipality of San Antonio de los Banõs, La Habana, Cuba, employing as a sample 3,295 of the area's inhabitants. These persons, selected by stratified, non-restricted sampling techniques, represented 11.02 per cent of the total population. The asthma prevalence found in this sample, which was considered representative of the local population, was 9.74 percent. No significant variations were noted in male and female prevalence rates. The occurrence of bronchial asthma is strongly influenced by inheritance. Our survey supported this view, and also showed that the age of asthma onset is influenced by whether or not the subject's family has a positive history of allergy or not. However, patients with a positive history on one side of their family had an age of onset that was not significantly different from patients with a positive history on both sides (p less than 0.35). Overall, the results tend to confirm that the inheritance of bronchial asthma is autosomal and does not conform to simple dominant or recessive inheritance patterns. Rather, asthma inheritance appears multifactorial, perhaps involving varying degrees of expression, indicating that more is involved than absence or deficiency of a single enzyme.

Adolescent↗
PubMed1985

Tomaculous neuropathy: hereditary predisposition to pressure palsies.

A family is described in which six members in three generations have been affected by a remittent and pressure-sensitive mononeuritis or mononeuritis multiplex. In addition, nerve conduction studies have demonstrated the presence of peripheral neuropathy in clinically unaffected as well as affected family members, thus providing evidence of an autosomal dominant inheritance pattern. A sural nerve biopsy from one of of an autosomal dominant inheritance pattern. A sural nerve biopsy from one of the clinically affected members of this family showed 'sausage-shaped' swellings of myelin sheaths characteristic of tomaculous neuropathy. This rare condition, which is briefly reviewed, appears to be a distinctive clinicopathological entity and usually follows a benign course.

Adolescent↗
PubMed2025

Pedigree analysis and genetic inheritance of fatal familial insomnia (FFI) in a Portuguese multigenerational family.

Fatal familial insomnia (FFI) is a rare, autosomal dominant prion disease caused by a mutation in the PRNP gene, leading to the misfolding of the cellular prion protein (PrPC) into its pathogenic form (PrPSc). This results in neurodegeneration, particularly in the thalamus, a key region regulating sleep-wake cycles, which underlies the hallmark symptoms of FFI, including insomnia, autonomic dysfunctions, motor disturbances and cognitive decline. This study focuses on a Portuguese family with FFI, providing a detailed pedigree analysis spanning five generations and comprising 134 individuals, to elucidate inheritance patterns, disease onset, and clinical progression. The findings confirm the autosomal-dominant inheritance pattern and a strong familial clustering of the disease with age of onset in the late 50s (mean 57 years). Although 67% of affected individuals succumbing to the disease within months to 1.5 years, a notably 33% exhibited prolonged survival beyond the typical disease duration, exceeding proportions reported in the literature. Family members retrospectively reported prodromal symptoms, including generalized pain, headaches, tinnitus, pruritus, and behavioral changes, occurring up to five years before diagnosis. In several cases, reportedly, disease onset was associated with major phycological stressors (e.g., emotional stress or mourning). While the significance of these observations remains uncertain, they may provide insights into potential early features in this kindred. Further research integrating genomic sequencing, biomarkers, and longitudinal clinical assessments are needed to better understand the mechanisms underlying the heterogeneity of FFI and to explore potential therapeutic interventions.

Humans↗
PubMed1990

The developmental fate of fission yeast cells is determined by the pattern of inheritance of parental and grandparental DNA strands.

A key feature for development consists of producing sister cells that differ in their potential for cellular differentiation. Following two cell divisions, a haploid Schizosaccharomyces pombe cell produces one cell in four 'granddaughters' with a changed mating cell type, implying nonequivalence of sister cells in each of two consecutive cell divisions. The observed pattern of switching is analogous to the mammalian 'stem cell' lineage by which a cell produces one daughter like itself while the other daughter is advanced in its developmental program. It is tested here whether sisters differ because of unequal distribution of cytoplasmic and/or nuclear components to them or due to inheriting a specific parental DNA chain at the mating type locus. Only the DNA strand-segregation model predicts that those cells engineered to contain an inverted tandem duplication of the mating type locus should produce equivalent sisters. Consequently, two 'cousins' in four related granddaughter cells should switch. The results verified the prediction, thus establishing that all cells otherwise fully possess the potential to switch. Therefore, the program of cell type change in S.pombe cell lineages is determined by the pattern of DNA strand inheritance at the mating type locus. A specific DNA sequence present at the mating type locus is postulated to be the cause of developmental asymmetry between sister cells. A general model for cellular differentiation is proposed in which the act of DNA replication itself is hypothesized to produce developmentally nonequivalent sister genomes.

DNA, Fungal↗
PubMed1977

Thyroxine binding globulin deficiency in a family with type I hyperlipoproteinaemia.

A familial type I hyperlipoproteinaemia is described in three members of a family of eleven; on the basis of LPL activity and HDL content of plasma three other members of the family have been diagnosed to be heterozygotes without other disturbances in their lipid spectrum. The distribution of this lipid disorder is in accordance with an autosomal recessive inheritance pattern. In this family a second hereditary condition, thyroxine binding globulin deficiency, was found in addition to the hyperlipoproteinaemia. The inheritance of this condition appears to be as an autosomal dominant. An interrelated inheritance pattern of both conditions could not be proved, but both traits may be located on the same chromosome at some distance from another to allow recombination.

Adult↗
PubMed1977

Bilateral absence of the kidneys and ureters. Three cases reported in one family.

Three infant boys with bilateral absence of the kidneys and hypoplasia of the lungs are described. Two of the infants were brothers and the third was a first cousin. They were born to 2 sisters whose husbancs were unrelated to their wives and to each other. None of the parents had renal problems. The occurrence of this syndrome in 2 male sibs is suggestive of an autosomal recessive inheritance pattern which has been previously described. An additional male first cousin born to the mother's sister is sugesstive of sex-linked inheritance for this particular family, an inheritance pattern not previously described.

Abnormalities, Multiple↗
PubMed1988

Steatocystoma multiplex with bilateral preauricular sinuses in four generations.

A rare case of steatocystoma multiplex and bilateral preauricular sinuses in four generations is presented along with a review of the literature. The cause, pathogenesis, and treatment of steatocystoma multiplex is discussed. Steatocystoma multiplex (SCM) is a rare clinical disorder characterized by numerous recurrent cutaneous cysts. Since the first case described by Bosellini in 1898, both nonfamilial and autosomal dominant inheritance patterns have been described. There have been at least 13 well-documented nonfamilial cases. However, since Noonjin and Reynolds in 1948 first described the autosomal dominant inheritance pattern, only 4 well-documented familial cases have been reported. To date, there has been one case report of SCM in four generations, and that case was not associated with any other anomaly. The present case describes the occurrence of SCM in association with bilateral preauricular sinuses in multiple generations.

Adult↗
PubMed1990

Keratoconus and Fuchs' corneal endothelial dystrophy in a patient and her family.

A 44-year-old patient with bilateral keratoconus and bilateral Fuchs' dystrophy underwent penetrating keratoplasty. Examination of the patient's family revealed keratoconus in the patient's son and central guttata and abnormal endothelial cells in the patient's mother and daughter. Histopathologic evaluation of the corneal button demonstrated a thinned central epithelium and folds and keratocytes in Bowman's layer consistent with keratoconus. Central guttata, subepithelial bullae, and a decreased number of endothelial cells, consistent with Fuchs' endothelial dystrophy, were also seen. This case demonstrates that two distinct familial corneal diseases can occur in the same patient. Although one cannot conclude inheritance patterns based on this limited evaluation, the findings in this family support previous observations that keratoconus can be familial, and that Fuchs' corneal dystrophy has a female predilection with an autosomal-dominant inheritance pattern.

Adult↗
PubMed1987

Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis.

We report a pedigree in which a syndrome that resembled familial Mediterranean fever occurred in four family members over three successive generations. All four patients had systemic amyloidosis. Typically, patients with familial Mediterranean fever show an autosomal recessive inheritance pattern. The disorder commonly afflicts Sephardic Jews, Arabs, and persons of Turkish descent. Colchicine therapy dramatically reduces the attack rate of serositis. The family described herein is unique because of their European ethnicity and the autosomal dominant inheritance pattern. Unlike typical familial Mediterranean fever, colchicine had no influence on the attacks and did not prevent amyloidosis in the three patients who received this treatment.

Adult↗
PubMed1990

Prognostic significance of nondiploid DNA determined by flow cytometry in sporadic and familial medullary thyroid carcinoma.

To clarify the role of DNA measurements in predicting outcome after surgical treatment of medullary thyroid carcinoma (MTC), we performed flow cytometric analysis in nuclear suspensions of 119 MTC tumors. Of the 119 patients, 63 (53%) patients had sporadic tumors and 56 (47%) patients had familial tumors; survivors were followed for a mean of 13 years. DNA content was normal in 92 (77%) patients and abnormal (nondiploid) in 27 (23%) patients. Ten-year cause-specific mortality rates were 12%, 42%, and 49% with diploid, tetraploid/polyploid, or aneuploid tumors (p = 0.0009) and were greater with nondiploid tumors both in the sporadic (p = 0.012) and multiple endocrine neoplasia (familial) cases (p = 0.114). None of 27 patients with TNM stage I disease died of MTC. In patients with TNM stages II, III, and IV disease, DNA nondiploid tumors were associated with increased deaths from MTC. In a Cox proportional hazards model involving all 119 patients and adjusted for disease stage and inheritance pattern, nondiploid DNA was independently associated with increased deaths from MTC (p = 0.008). In an identical Cox model restricted to the 92 DNA diploid tumors, an S-phase fraction of 15.0% or more remained a significant variable (p = 0.034) after adjustment for stage and inheritance pattern. We therefore conclude that DNA measurements do have a role to play in predicting outcome after surgical treatment of MTC.

Adolescent↗