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.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Zhang N,Wang J,Liu S,Liu M,Jiang Fdoi
10.1080/13816810.2018.1479430subject
Has Abstractpub_date
2018-08-01 00:00:00pages
517-521issue
4eissn
1381-6810issn
1744-5094journal_volume
39pub_type
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pub_type: 杂志文章
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