A Novel PTPN11 mutation in LEOPARD syndrome
نویسندگان
چکیده
منابع مشابه
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene.
LEOPARD syndrome (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. However, hypertrophic cardiomyopathy, the most frequent cause of sudden cardiac death in young people, is the most common cardiovascular manifestation in LS patients and the major determinant of ...
متن کاملA novel PTPN11 gene mutation in a patient with LEOPARD Syndrome.
to increased resistance to apoptosis and carcinogenesis. To our knowledge, this mutation has not been previously described. The known mutations of the CYLD gene are mostly located in the C-terminal portion. Germline mutations display tissue-specific function loss. Another possibility would be that the germline mutation determines the tissues where the preferred second hit occurs. When the secon...
متن کاملA Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome
LEOPARD syndrome (LS) is a congenital developmental disorder and is an acronym for multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness (1). These clinical features overlap those of Noonan syndrome (NS), and heterozygous germline PTPN11 mutations have been ident...
متن کاملLEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD.
LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertr...
متن کاملONLINE MUTATION REPORT PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
B Keren, A Hadchouel, S Saba, Y Sznajer, D Bonneau, B Leheup, O Boute, D Gaillard, D Lacombe, V Layet, S Marlin, G Mortier, A Toutain, C Beylot, C Baumann, A Verloes, H Cavé, for the French Collaborative Noonan Study Group . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2003
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.9149