Temperature-Sensitive RB Mutations Linked to Incomplete Penetrance of Familial Retinoblastoma in 12 Families
نویسندگان
چکیده
منابع مشابه
Penetrance of mutations in the familial Wilms tumor gene FWT1.
Wilms tumor is an embryonal kidney cancer that affects one in 10 000 children. Epidemiologic studies have shown that 1%–3% of cases of Wilms tumor are familial and that a predisposition to Wilms tumor is probably caused by rare germline mutations acting in a dominant fashion (1). The risks of Wilms tumor conferred by mutations in these genes are poorly characterized, with estimates of their pen...
متن کاملIncomplete penetrance of MHC
We propose an approach to understanding incomplete penetrance of disease susceptibility genes as a method of studying the underlying mechanisms of polygenic diseases. Incomplete penetrance is the failure of genetically susceptible individuals to exhibit a trait. We define as baseline penetrance that which occurs in genetically identical (monozygotic) twins of an index subject with a major histo...
متن کاملNon-penetrance and late appearance of polyps in families with familial adenomatous polyposis
Accepted for publication 2 February 1993 Abstract One case of non-penetrance of the familial adenomatous polyposis (FAP) gene at 59 years of age and late onset of polyps on endoscopy and biopsy in this and two other families is described. Screening protocols should include dental screening as well as indirect ophthalmoscopy and endoscopy to detect minimal manifestations of the gene. In the abse...
متن کاملNon-penetrance and late appearance of polyps in families with familial adenomatous polyposis.
One case of non-penetrance of the familial adenomatous polyposis (FAP) gene at 59 years of age and late onset of polyps on endoscopy and biopsy in this and two other families is described. Screening protocols should include dental screening as well as indirect ophthalmoscopy and endoscopy to detect minimal manifestations of the gene. In the absence of a specific DNA predictive test, bowel scree...
متن کاملCNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance
Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptomatic carriers are protected from the disease by a higher than average expressi...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1999
ISSN: 0002-9297
DOI: 10.1086/302581