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Triagem de gene patogênico e detecção da mutação em uma família chinesa com osteocondroma múltiplo

Postado em: 16/07/2012

Pathogenic gene screening and mutation detection in a chinese family with multiple osteochondroma

Autor(es): Wang X; Li L; Li J; Sun J; Heng X; Gong Y; Liu Q
Fonte: Genet Test Mol Biomarkers; 16(7): 827-32, 2012 Jul.
Artigo [MEDLINE PMID: 22799611 ] Idioma: Inglês
Tipo de publicação: Artigo de Revista

Multiple osteochondroma (MO) is an autosomal dominant disease characterized by abnormal skeleton development: one or more exostoses localized mainly at the end of long bones. Three pathogenic gene loci have been identified and cloned: EXT1, 2, and 3. Only EXT1 and 2 mutations were reported to cause MO. Here, we report on a large Chinese family with MO and a disease-causing mutation in EXT. We extracted DNA from peripheral blood samples of 25 family members, 9 with MO. Polymerase chain reaction and direct DNA sequencing of the entire coding regions of EXT1 and 2 for the nine patients revealed a novel pathogenic mutation, insertion of a T in exon 2 (c.72-73 insT) of EXT2. Our results extend the mutational spectrum of MO and can help with genetic counseling and prenatal diagnosis for this family.
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