Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct.

Conclusion: In summary, this study revealed two compound heterozygous mutations (c.1174A>T/c.1181delTCT; c.919- 2A>G/c.1023insC) in Pendrin protein, which might account for the deafness of the two probands clinically diagnosed with EVA. Thus this study contributes to improve understanding of the causes of hearing loss associated with EVA and develop a more scientific screening strategy for deafness. PMID: 30086623 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30086623?dopt=Abstract

Source: Clinical and Experimental Otorhinolaryngology - August 9, 2018 Category: ENT & OMF Tags: Clin Exp Otorhinolaryngol Source Type: research