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

ABSTRACT:

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 clinical and genetic analyses. Variants were detected by targeted next-generation sequencing and sequencing data were compared with the Human Genome Reference (GRCh 37/hg 19) to identify mutant genes and loci. Furthermore, online tools such as RDDC, SpliceAI, and REVEL were used to predict risks from different variants.

Results

Both two probands failed neonatal he

SUBMITTER: Shi X 

PROVIDER: S-EPMC11287821 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature