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Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.
Lo Faro, Valeria; Siddiqui, Sorath N; Khan, Muhammad I; Villanueva-Mendoza, Cristina; Cortés-González, Vianney; Jansonius, Nomdo; Bergen, Arthur A B; Micheal, Shazia.
Afiliação
  • Lo Faro V; Department of Clinical Genetics, University Medical Center (UMC), University of Amsterdam (UvA), Amsterdam, The Netherlands.
  • Siddiqui SN; Department of Ophthalmology, University Medical Center Groningen (UMCG), University of Groningen (RUG), Groningen, The Netherlands.
  • Khan MI; Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Eye Trust Hospital, Rawalpindi, Pakistan.
  • Villanueva-Mendoza C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud UMC, Nijmegen, The Netherlands.
  • Cortés-González V; Department of Genetics, Asociación Para Evitar la Ceguera en México, México, México.
  • Jansonius N; Department of Genetics, Asociación Para Evitar la Ceguera en México, México, México.
  • Bergen AAB; Department of Ophthalmology, University Medical Center Groningen (UMCG), University of Groningen (RUG), Groningen, The Netherlands.
  • Micheal S; Department of Clinical Genetics, University Medical Center (UMC), University of Amsterdam (UvA), Amsterdam, The Netherlands.
Mol Genet Genomic Med ; 8(7): e1215, 2020 07.
Article em En | MEDLINE | ID: mdl-32400113
PURPOSE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine the PITX2 gene to identify possible novel mutations in Pakistani and Mexican families affected by the ARS phenotype. METHODS: Three unrelated probands with a diagnosis of ARS were recruited for this study. Genomic DNA was isolated from the peripheral blood of the probands and their family members. Polymerase chain reaction and Sanger sequencing were used for the analysis of coding exons and the flanking intronic regions of the PITX2 gene. Bioinformatics tools and database (VarSome, Provean, and MutationTaster, SIFT, PolyPhen-2, and HOPE) were evaluated to explore missense variants. RESULTS: We identified novel heterozygous variations in the PITX2 gene that segregated with the ARS phenotype within the families. The variant NM_153426.2(PITX2):c.226G > T or p.(Ala76Ser) and the mutation NM_153426.2(PITX2):c.455G > A or p.(Cys152Tyr) were identified in two Pakistani pedigrees, and the mutation NM_153426.2(PITX2):c.242_265del or p.(Lys81_Gln88del), segregated in a Mexican family. CONCLUSION: Our study extends the spectrum of PITX2 mutations in individuals with ARS, enabling an improved diagnosis of this rare but serious syndrome.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Oftalmopatias Hereditárias / Anormalidades do Olho / Proteínas de Homeodomínio / Segmento Anterior do Olho / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male País/Região como assunto: Mexico Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Oftalmopatias Hereditárias / Anormalidades do Olho / Proteínas de Homeodomínio / Segmento Anterior do Olho / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male País/Região como assunto: Mexico Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos