Cognitive phenotype in neurofibromatosis type 1
نویسندگان
چکیده
منابع مشابه
Neurofibromatosis 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 کاملNF1 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 کاملCognitive and psychosocial phenotype of young children with neurofibromatosis-1.
Children with neurofibromatosis-1 (NF1), a neurodevelopmental disorder resulting from a mutation of the NF1 gene (17q11.2), often have difficulties with learning and attention, but there is little research in the early childhood years. In this study, the cognitive and psychosocial functioning of 40 young children with NF1 (ages 3 through 6) was examined and compared both to normative data and t...
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 کاملSPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
OBJECTIVE Germline loss-of-function mutations in the SPRED1 gene have recently been identified in patients fulfilling the National Institutes of Health (NIH) diagnostic criteria for neurofibromatosis type 1 (NF1) but with no NF1 (neurofibromin 1) mutation found, suggesting a neurofibromatosis type 1-like syndrome. METHODS 61 index cases with NF1 clinical diagnosis but no identifiable NF1 muta...
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ژورنال
عنوان ژورنال: Engrami
سال: 2020
ISSN: 0351-2665
DOI: 10.5937/engrami41-28271