Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. (4th July 2018)

• Record Type: Journal Article
• Authors: Zhang, Nian; Wang, Juan; Liu, Shuting; Liu, Mugen; Jiang, Fagang
• Is Part Of: Ophthalmic genetics. Volume 39:Number 4(2018)
• Page Start: 517
• Page End: 521
• Publication Date: 2018-07-04
• Subjects: Usher syndrome type IIC -- mutation -- whole-exome sequencing -- ADGRV1; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2018.1479430
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: Background: To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. Materials and Methods : Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total of 658 genes associated with them. We screened the possible pathogenic mutation sites, used Sanger to exclude the false positive and verified whether there were co-segregated among the family members.Results: Typical fundus features found in the proband supported the diagnosis of retinitis pigmentosa (RP). Audiometric test indicated moderate to severe sensorineural hearing impairment while the vestibular function was normal. Whole-exome sequencing identified the presence of two novel compound heterozygous mutations in ADGRV1, a known gene responsible for Usher syndrome type IIC. Mutationc.15008delG/p.Gly5003AlafsTer13 was inherited from the mother while c.18383_18386dupACAG/p.His6130GlnfsTer84 was inherited from the father, and they were co-segregated with the disease phenotype in the family.Conclusions: The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients.