Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal recessive nonsyndromic hearing loss in a Chinese family
作者单位：Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Hearing Liuzhou Municipal Maternity and Child Healthcare Hospital
会议名称：《中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会》
会议日期：2016年
学科分类：100208[医学-临床检验诊断学] 1002[医学-临床医学] 100213[医学-耳鼻咽喉科学] 10[医学]
摘 要：Objective The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and tim e consuming using available methods. Whole-exome sequencing has recently been introduced a s an alternative approach to identifying causative mutations in Mendelian disorders. Method To identify the hidden mutations that cause autosomal recessive nonsyndromic hearing l oss(ARNSHL), we performed whole-exome sequencing of a Chinese family with ARNSHL who w ere negative for GJB2 or SLC26 A4 mutations. Result We found two novel compound heterozygous frame-shift mutations, c.1360 del T and c.1507 del A, of MARVELD2 in the family with ARNSHL. Conclusion This is the first report of MARVELD2 frame-shift mutations in a Chinese population. We suggest that close attention should be paid to this gene when performing genetic testing of pa tients with hearing loss in China. The present results also indicate that whole-exome sequencing i s a valuable method for comprehensive medical diagnosis of a genetically heterogeneous recessi ve disease, especially in small-sized families.