Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation
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 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 Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
M ultiple lentigines LEOPARD syndrome (MIM 151100) is an autosomal dominant multiple congenital anomaly syndrome, with high penetrance and markedly variable expression. The acronym LEOPARD was coined by Gorlin et al. in 1971 as a mnemonic of the major features of this disorder: multiple lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retard...
متن کاملMultiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).
The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome, except in the most striking feature from which its name is derived. The less neutral but very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al to whom the major debt in the definition of this syndrome lies, that is, Lentigines, ECG abnormalities, Ocular hypertelorism...
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...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2015
ISSN: 0001-5555
DOI: 10.2340/00015555-2123