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Abstract

LARGE DELETIONS IN VLGR1 CAUSES ASCHER SYNDROME TYPE IIC IN MALE AND FEMALE PATIENTS IN A FAMILY OF TABRIZ – IRAN

*Shahin Asadi and Saeedeh Habibi

ABSTRACT

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, Retinopigmentosa 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-Tabrizi 9, 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. In the family described a male with USH2C first mutation was identified in VLGR1.

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


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