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Int J Audiol ; 54(9): 593-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25926005

RESUMO

OBJECTIVE: To identify novel genetic causes of syndromic hearing loss in Brazil. DESIGN: To map a candidate chromosomal region through linkage studies in an extensive Brazilian family and identify novel pathogenic variants using sequencing and array-CGH. STUDY SAMPLE: Brazilian pedigree with individuals affected by BO syndrome characterized by deafness and malformations of outer, middle and inner ear, auricular and cervical fistulae, but no renal abnormalities. RESULTS: Whole genome microarray-SNP scanning on samples of 11 affected individuals detected a multipoint Lod score of 2.6 in the EYA1 gene region (chromosome 8). Sequencing of EYA1 in affected patients did not reveal pathogenic mutations. However, oligonucleotide-array-CGH detected a duplication of 71.8Kb involving exons 4 to 10 of EYA1 (heterozygous state). Real-time-PCR confirmed the duplication in fourteen of fifteen affected individuals and absence in 13 unaffected individuals. The exception involved a consanguineous parentage and was assumed to involve a different genetic mechanism. CONCLUSIONS: Our findings implicate this EYA1 partial duplication segregating with BO phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the BOR/BO syndrome.


Assuntos
Síndrome Brânquio-Otorrenal/genética , Duplicação Gênica , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas Nucleares/genética , Linhagem , Proteínas Tirosina Fosfatases/genética , Síndrome Brânquio-Otorrenal/complicações , Brasil , Consanguinidade , Orelha/anormalidades , Éxons , Feminino , Perda Auditiva Condutiva-Neurossensorial Mista/genética , Perda Auditiva Neurossensorial/genética , Humanos , Escore Lod , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Reação em Cadeia da Polimerase em Tempo Real
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