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Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
Micheal, Shazia; Khan, Muhammad Imran; Akhtar, Farah; Weiss, Marjan M; Islam, Farah; Ali, Mehmood; Qamar, Raheel; Maugeri, Alessandra; den Hollander, Anneke I.
Afiliação
  • Micheal S; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
Mol Vis ; 18: 1918-26, 2012.
Article em En | MEDLINE | ID: mdl-22876116
PURPOSE: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS). METHODS: Blood samples were collected of 11 family members affected with Marfan syndrome, and DNA was isolated by phenol-extraction. The coding exons of FBN1 were analyzed by polymerase chain reaction (PCR) and direct sequencing. One hundred-thirty controls were screened for a mutation in the FBN1 gene that was identified in this family by restriction fragment length polymorphism (RFLP) analysis. RESULTS: A novel heterozygous missense mutation c.2368T>A; p.Cys790Ser was observed in exon 19. This mutation substitutes a highly conserved cysteine residue by serine in a calcium binding epidermal growth factor-like domain (cbEGF) of FBN1. This mutation was present in all affected members and absent from unaffected individuals of the family in addition to 130 healthy Pakistani controls. Interestingly all affected family members presented with ectopia lentis, myopia and glaucoma, but lacked the cardinal cardiovascular features of MFS. CONCLUSIONS: This is a first report of a mutation in FBN1 in MFS patients of Pakistani origin. The identification of a FBN1 mutation in this family confirms the diagnosis of MFS patients and expands the worldwide spectrum of FBN1 mutations.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ectopia do Cristalino / Glaucoma / Mutação de Sentido Incorreto / Síndrome de Marfan / Proteínas dos Microfilamentos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2012 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ectopia do Cristalino / Glaucoma / Mutação de Sentido Incorreto / Síndrome de Marfan / Proteínas dos Microfilamentos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2012 Tipo de documento: Article