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PubMed1990

Diagnosis of the multiglandular endocrine neoplasias.

Multiglandular endocrine neoplasia syndromes are disorders characterized by autosomal dominant inheritance patterns and by the striking patterns of clinical presentation of these endocrine tumors, which are often hormonally active. Not every patient with adenomas of more than one endocrine gland has one of these classical familial syndromes. This paper will deal with the specific diseases known as multiglandular endocrine neoplasia Types 1, 2A, and 2B. Types 2A and 2B are also known as Types II and III.

Humans↗
PubMed1991

Familial multiple desmoplastic trichoepitheliomas.

A kindred with familial multiple desmoplastic trichoepitheliomas is described. Desmoplastic trichoepitheliomas should be added to the group of lesions that indicate an inherited pattern when they occur as multiple primary tumors. The implications for nosologic status and treatment of desmoplastic trichoepitheliomas are considered.

Adult↗
PubMed1991

Sialic acid metabolism in sialuria fibroblasts.

Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid (N-acetylneuraminic acid, NeuAc). Fibroblasts cultured from the three known cases of sialuria contained 70-200-fold increases in soluble sialic acid, but normal concentrations of bound sialic acid. The sialic acid appeared in the cytosolic fraction of the cells on differential centrifugation, and was susceptible to borohydride reduction, suggesting that accumulated sialic acid was in the form of NeuAc and not CMP-NeuAc. In biochemical studies, CMP-NeuAc (50 microM) inhibited the UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase of normal fibroblasts by 84-100%, but inhibited the epimerase from sialuria cells by only 19-31%. Feeding sialuria cells up to 5 mM D-glucosamine for 72 h increased free sialic acid content 20-60%, but normal cells were unaffected by this treatment. Cytidine feeding (5 mM, 72 h) reduced the NeuAc content of sialuria cells, initially 112, 104, and 266 nmol/mg protein, by 63-71 nmol/mg protein; CMP-NeuAc concentrations, initially 4, 2, and 5 nmol/mg protein, increased by 14-33 nmol/mg protein. Consequently, the total cellular content of soluble sialic acid (NeuAc + CMP-NeuAc) was lowered 14-46% by cytidine feeding. The inheritance pattern of sialuria has not been determined. However, cells from both parents of one sialuria patient contained normal concentrations of free sialic acid, and the parental epimerase activity also responded normally to CMP-NeuAc. We conclude that the basic biochemical defect in all known cases of sialuria is a failure of CMP-NeuAc to feedback-inhibit UDP-GlcNAc 2-epimerase and cytidine feeding can lower the intracellular soluble sialic acid concentration of sialuria cells.

Child, Preschool↗
PubMed1991

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by abnormal deposition of cholesterol and cholestanol in multiple tissues. Deposition in the central nervous system leads to neurological dysfunction marked by dementia, spinal cord paresis, and cerebellar ataxia. Deposition in other tissues causes tendon xanthomas, premature atherosclerosis, and cataracts. In two unrelated patients with CTX, we have identified different point mutations in the gene (CYP27) encoding sterol 27-hydroxylase, a key enzyme in the bile acid biosynthesis pathway. Transfection of mutant cDNAs into cultured cells results in the synthesis of immunoreactive sterol 27-hydroxylase protein with greatly diminished enzyme activity. We have localized the CYP27 gene to the q33-qter interval of human chromosome 2, and to mouse chromosome 1, in agreement with the autosomal recessive inheritance pattern of CTX. These findings underscore the essential role played by sterols in the central nervous system and suggest that mutations in other sterol metabolizing enzymes may contribute to diseases with neurological manifestations.

Animals↗
PubMedDate not supplied

Genetic heterogeneity of Oguchi's disease.

An analysis of the cases reported in Punjab, India, indicates the presence of genetic heterogeneity of Oguchi's disease, for which autosomal recessive inheritance has been documented earlier. The autosomal dominant inheritance pattern of this disease is associated with incomplete penetrance and a distinct sex bias towards females. This recognition is important for genetic counselling.

Adolescent↗
PubMed1990

Genetics of golden-yellow larva in Anopheles stephensi.

Two larval body color mutants, golden-yellow larva (gy) and Black larva (Bl) were isolated from laboratory strains of Anopheles stephensi. The inheritance pattern revealed that golden-yellow larva was an autosomal recessive and Black larva an autosomal semi-dominant mutant. Both of these mutants were found to be linked with a map distance of 3.75 +/- 0.42 and have been placed in linkage group III.

Animals↗
PubMed1990

Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa.

Of 84 patients with dystrophic forms of epidermolysis bullosa consecutively enrolled in the National Epidermolysis Bullosa Registry, four were noted by indirect immunofluorescence with the LH 7:2 monoclonal antibody to have granular basilar keratinocyte intracytoplasmic deposits, rather than exclusively linear basement membrane deposits, of type VII collagen. Indirect immunoelectron microscopy demonstrated that these deposits were primarily perinuclear, although lesser amounts were also detectable between tonofibril bundles, within hemidesmosomes, and within and beneath the lamina densa. In two patients the mode of transmission was autosomal dominant; in two others the inheritance pattern was unknown. Whereas widespread lesions were present at birth, in each case blistering ceased within the first year of life, reminiscent of the findings in transient bullous dermolysis of the newborn. We interpret these laboratory findings as indicative of the presence of a defect in the intracytoplasmic packaging or in the transport of type VII collagen within basilar keratinocytes.

Age Factors↗
PubMed1990

[Clinical and socioepidemiological aspects of chorioretinal diseases in school children].

With its high prevalence Retinitis pigmentosa presents a significant cause of visual impairment in the industrialized countries. We studied a population sample of 34 patients and analysed statistically various parameters as the inheritance pattern, the age of primary diagnosis and of subjective onset, the visual function, electrophysiological findings, social circumstances including the occupational and vocational distributions. Epidemiological, social and clinical aspects and their interactions are discussed and analysed in both sexes and a framework for evaluating the visual and social handicap of the patient is proposed as well.

Adolescent↗
PubMed1990

Spontaneous abnormalities in normal fibroblasts from patients with Li-Fraumeni cancer syndrome: aneuploidy and immortalization.

Families of patients with the Li-Fraumeni cancer syndrome have an inherited pattern of sarcomas and various other types of cancers that follow a dominant mode of transmission, an early age of onset, and exhibit multiple primary tumors. As soft tissue sarcomas (including fibrosarcomas) are frequently observed with this syndrome, the in vitro growth characteristics of fibroblasts derived from skin biopsies of Li-Fraumeni syndrome patients were studied. Control fibroblasts maintained a normal morphology and eventually senesced in culture. Fibroblasts from seven of eight affected individuals developed changes in morphology, anchorage-independent growth, and chromosomal abnormalities. In a fashion similar to that of fibroblasts from normal donors they underwent a growth crisis during which their growth was slow, but they continued to grow past the point at which control samples had stopped dividing (35 population doublings). Fibroblasts from Li-Fraumeni cancer patients escape senescence, growing well beyond 35 population doublings with growth rates similar to early-passage cells. Patient fibroblasts maintain the morphology of a transformed cell but remain nontumorigenic in nude mice. These observations of the behavior of fibroblasts from patients with the Li-Fraumeni syndrome may have predictive value for the determination of gene carriers within these families who are at high risk of cancer.

Aneuploidy↗
PubMed1990

Radial polydactyly.

Excessive longitudinal segmentation of the radial portion of the limb bud results in the clinical presentation of duplicated and triphalangeal thumbs. These are common congenital problems with various possible associated anomalies and variable inheritance patterns. Reconstruction of a thumb with stable joints, muscle balance, and good alignment requires attention to each tissue component at the time of the initial surgery.

Fingers↗
PubMed1990

[Familial occurrence of bilateral renal agenesis].

The 58 cases of bilateral renal agenesis (Potter syndrome) registered in the Genetic Counselling of our institute in the last 12 years are reviewed. The only recurrent case which has been prenatally diagnosed is described in details. An urinary bladder anomaly like that of the subsequent child has not been reported in such a family previously. The authors analyze the possible inheritance patterns taking into account the previous references, too. They suggest the malformation is a genetically heterogeneous entity. They emphasize that nowadays the birth of a newborn with bilateral renal agenesis can be prevented in all cases.

Abnormalities, Multiple↗
PubMed1990

A genetic study of Hirschsprung disease.

Hirschsprung disease, or congenital aganglionic megacolon, is commonly assumed to be a sex-modified multifactorial trait. To test this hypothesis, complex segregation analysis was performed on data on 487 probands and their families. Demographic information on probands and the recurrence risk to relatives of probands are presented. An increased sex ratio (3.9 male:female) and an elevated risk to sibs (4%), as compared with the population incidence (0.02%), are observed, with the sex ratio decreasing and the recurrence risk to sibs increasing as the aganglionosis becomes more extensive. Down syndrome was found at an increased frequency among affected individuals but not among their unaffected sibs, and the increase was not associated with maternal age. Complex segregation analysis was performed on these family data. The families were classified into separate categories by extent of aganglionosis. For cases with aganglionosis beyond the sigmoid colon, the mode of inheritance is compatible with a dominant gene with incomplete penetrance, while for cases with aganglionosis extending no farther than the sigmoid colon, the inheritance pattern is equally likely to be either multifactorial or due to a recessive gene with very low penetrance. A model of gene action with random effects during morphogenesis is compatible with our observations.

Female↗
PubMedDate not supplied

[Hypokalemia and hypoevolutism. Description of a case of Bartter's syndrome].

In 1962 Bartter et al. described a clinical syndrome characterized by growth and mental retardation, hypokalemic alkalosis, increased aldosterone secretion rate and increased plasma angiotensin II concentration in the presence of normal blood pressure. The inheritance pattern has been reported as autosomal recessive or as sporadic. Since that time 37 cases have been reported in pediatric age, describing a wide spectrum of clinical and biochemical features. For the diagnosis the following criteria must be present: hypokalemia, hypochloremia, alkalosis, hyperreninemia in the presence of a normal blood pressure and elevated urinary K and Cl excretion, in the absence of other conditions that might cause similar features. A case of Bartter's disease is herein reported with our experience in the diagnosis, treatment and follow-up.

Adolescent↗
PubMed1977

Family studies and HLA typing in ankylosing spondylitis and sacroiliitis.

The families of 21 ankylosing spondylitis (AS) and 16 sacroiliitis (SI) patients were investigated and typed for HLA markers. The association of HLA B27 with AS was confirmed, but no strong evidence for the same or other HLA markers being associated with SI was found. Inheritance patterns in families were analyzed according to the multifactorial and monofactorial models. It is proposed that a major gene associated or interacting with the B27 product controls the susceptibility to AS, and that this gene behaves as a dominant with incomplete penetrance. The problem as to whether linkage disequilibrium maintained by selective pressure, or functional epistasis between the "disease gene" and the B27 antigen may be the acting mechanism of association, remains to be elucidated.

Arthritis↗
PubMed1989

McArdle disease in a Druze family.

McArdle disease is reported in three generations of a consanguineous Druze family. The diagnosis was established on the basis of a failure of a rise in lactate in the ischemic forearm exercise test, glycogen accumulation in muscle fibers and the lack of myophosphorylase by histochemical and biochemical studies. The inheritance pattern is compatible with an autosomal recessive mode. Examination of family members revealed a marked variability in the clinical findings and functional status. This is the first reported case of the disorder in this ethnic group.

Adult↗
PubMed1989

[Cutis laxa syndrome. Clinical, histologic and ultrastructural study of a new variant].

Cutis laxa (generalized elastolysis) is a rare systemic disorder of connective tissue, whose elastic fibers appear fragmented and disorganized. The present study reports an undescribed form of cutis laxa in an infant male with loose and inelastic skin, osteoporosis, pulmonary emphysema and dislocation of the hip. The clinical features and the inheritance patterns of the various forms of cutis laxa are also discussed.

Cutis Laxa↗
PubMed1989

Congenital long QT syndrome in adults.

A family with the Romano-Ward syndrome is presented. This family showed typical features of this syndrome with QT prolongation, torsades de pointes ventricular tachycardia, sudden death and an autosomal dominant inheritance pattern. The index case presented with an exacerbation of torsades de pointes ventricular tachycardia from diuretic induced hypokalaemia, and responded to diuretic withdrawal and beta blocker therapy.

Adolescent↗
PubMed1989

Segregation of genetic hemochromatosis indexed by latent capacity of transferrin.

A genetic analysis of the segregation of hereditary hemochromatosis, indexed by the measurement of latent capacity of transferrin (LCAP), was undertaken in an ascertained sample of 147 pedigrees from Brittany, France. There were no mean differences by sex in the distribution of LCAP in the control sample, although in the family data there was a higher representation of males with low values than of females with low values, consistent with the higher proportion of affected males. The results of bivariate segregation analysis revealed no systematic evidence for heterozygous expression either in the biochemical domain of LCAP abnormalities or in increased liability to overt symptomatic disease. Joint consideration of the quantitative variable with hemochromatosis affection status allowed clear resolution of a recessive single-gene inheritance pattern in these families.

Adult↗