[Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss].

a.lsfakia shared this article with you from Inoreader [Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss]. Via pubmed: familial hearing los... [Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2020 Sep;34(9):777-781 Authors: Zhang Q, Wu K, Zhao C, Xie L, Xiong F, Lan L, Wang Q Abstract Objective:To explore the genetic cause of a Chinese autosomal dominant nonsyndromic hearing loss family and investigate the clinical features and molecular genetic characteristics of this family. Method:Detailed medical history and systematic audiology tests were carried out in the family members, and they were subjected to comprehensive genetic analyses using massively parallel sequencing, which targeted 139 known deafness genes and 6 mitochondrial DNA mutations associated with hearing loss. Result:This family's hearing loss was consistent with autosomal dominant nonsyndromic hearing loss. The affected family members appeared to have developed a high-frequency hearing loss with the onset of twenties. We identified a heterozygous missense mutation, c.418A>G/p. Thr140Ala in the CEACAM16 gene, segregating with the deafness in this family. Conclusion:In this study, we identified a new mutation of CEACAM16 gene, which was the second mutation identified in Chinese hearing loss population. It has enriched the mutation spectrum of this gene. PMID: 33040498 [PubMed - in process] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.