NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
نویسندگان
چکیده
منابع مشابه
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP-c for the 1.4 Mb type-1 microdeletion, and SUZ12 and SUZ12P for the ...
متن کاملNeurofibromatosis type 1: from genotype to phenotype.
Although neurofibromatosis 1 (NF1) is a common Mendelian disorder with autosomal-dominant inheritance, its expression is highly variable and unpredictable. Many NF1 patients have been genotyped but few allele-phenotype correlations have been identified. NF1 genotype-phenotype correlations are difficult to identify because of the complexity of the NF1 phenotype, its strong age dependency, the re...
متن کاملMolecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population
Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease that is primarily characterized by multiple café au-lait spots (CALs) and skin neurofibromas, which are attributed to defects in the tumor suppressor NF1. Because of the age-dependent presentation of NF1, it is often difficult to make an early clinical diagnosis. Moreover, identifying genetic alterations in NF1 patients ...
متن کاملEvaluation of genotype-phenotype correlations in neurofibromatosis type 1.
N eurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance and extremely variable expression, and an incidence of approximately 1 in 4000 live births. Despite the high incidence of NF1, neither the natural history nor the genetic epidemiology of the disorder are well understood. People with NF1 have reduced reproductive fitness and life expectancy, but the cause o...
متن کاملNeurofibromatosis type 1 (NF1): diagnosis and management.
Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the neurofibroma, a benign peripheral nerve sheath tumor. The gene for NF1 was cloned on chromosome 17q11.2 and neurofibromin, the NF1 protein, controls c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Mutation
سال: 2010
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.21271