Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
نویسندگان
چکیده
منابع مشابه
Epidemiology of thyroid dysgenesis: the familial component.
The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial thyroid dysgenesis in both symptomatic and asy...
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Epidemiological studies show a very high relative risk for first degree relatives of probands with thyroid cancer. The familial form of nonmedullary thyroid carcinoma (NMTC) gives a more severe phenotype and appears earlier than its sporadic counterpart. Moreover, benign thyroid pathologies are often observed in NMTC kindreds. Little is known about the genetic risk factors of the disease. To st...
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Three pedigrees were identified in which mitral valve prolapse seemed to be inherited as a mendelian autosomal dominant trait. The segregation of the genes encoding the major fibrillar collagens present in valve tissue, collagens I and III, was analysed by use of restriction enzyme site variants as genetic markers. In one pedigree there was discordance between the segregation of the disease and...
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Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance and variable expressivity. Familial HPE has been reported in many families with autosomal dominant inheritance in some and apparent autosomal recessive inheritance in others. We have examined 125 individuals from nine families with autosomal dominant HPE. Expression in...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2004
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201321