Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss

BACKGROUND: Autosomal dominant hearing loss is represented by a large number of genetically determined forms. Over 50 genes associated with dominant nonsyndromic hearing impairments were described. Pathogenic variants in the CEACAM16 gene lead to the development of DFNA4B hearing loss. Currently, 8...

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Main Authors: Tatiana G. Markova, Natalia N. Alekseeva, Oxana P. Ryzhkova, Olga L. Shatokhina, Anna A. Orlova, Viktoriia V. Zabnenkova, Olga S. Groznova, Olesya V. Sagaydak, Svetlana S. Chibisova, Alexander V. Polyakov, George A. Tavartkiladze
Format: Article
Language:English
Published: AVES 2024-03-01
Series:Journal of International Advanced Otology
Online Access:https://www.advancedotology.org/en/auditory-phenotype-of-a-novel-missense-variant-in-the-ceacam16-gene-in-a-large-russian-family-with-autosomal-dominant-nonsyndromic-hearing-loss-131912
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