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Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families.

Molecular genetics & genomic medicine - 1 Aug 2024

Shi Xinyu, Liu Xiaozhou, Zong Yanjun, Zhao Zhengdong, Sun Yu

Abstract excerpt

BACKGROUND: Hereditary hearing loss is an important component of congenital hearing loss. MARVELD2 (OMIM ID:610572), located in the DFNB49 locus, which encodes a tight junction protein tricellulin playing an important role in the sensory epithelial barrier of the inner ear, may contribute to nonsyndromic autosomal recessive hereditary hearing loss. METHODS: Two Han Chinese pedigrees with hearing loss underwent...

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Deafness
East Asian People
Hearing Loss, Sensorineural
Heterozygote
Mutation

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PMID: 39078259
DOI: 10.1002/mgg3.2502
PMCID: PMC11287821

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