The Genetics Damage. Assessment of Large deletions in Gene VLGR1 causes Ascher syndrome type IIC in male and female patients in Family TABRIZ

      Аннотация: Today, genetic disorders due to a variety of genetic mutations in mitochondria mother usually happens, is created. Genetic mutations in the mitochondria, creates irreparable damage to humans. That's why we in this book we assess a variety of genetic mutations in Usher syndrome induction. In this syndrome, the three main genetic mutations USH1, USH2, USH3 involved.Ascher syndrome is a genetically and clinically heterogeneous disease. Tuesday clinical phenotype of the syndrome, including USH1, USH2, USH3 be caused by mutations in ten different genes. Ascher syndrome type IIC (USH2C) with mild to severe hearing loss, Retinouit pigmentosa and normal vestibular function characterized. Previous reports of mutations in VLGR1 this phenotype is shown in 5 families. In this study, we evaluated the deaf person is a family-Tabriz nine, 7 person who participated in this project. Five patients had a phenotype consistent with Ascher syndrome, but two other people who were non-syndromic deafness, had this haplotype. We have identified a new mutation in VLGR1 this family. This mutation is a large deletion G.371657-507673del and contains 84 exons and 85 and is likely to change the format.

Ключевые слова: Iran, Ascher syndrome type IIC (USH2C), Tabriz, gene VLGR1.