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Article

Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.

Molecular biology reports - 10 Sept 2025

Jagannath Kurva, Bhat Nalini, Ghosh Anu, Tawade Harshada, Cherian Susan, Shettigar Suresh

Abstract excerpt

BACKGROUND: Hearing loss (HL) is one of the most common congenital anomalies and is a complex etiologically diverse condition. Molecular genetic characterization of HL remains challenging owing to the high genetic heterogeneity. This study aimed to screen for potential disease-causing genetic variations in a cohort of Indian patients with congenital bilateral severe-to-profound sensorineural HL. METHODS AND...

Read the complete abstract on PubMed

Topics

Humans
Hearing Loss, Sensorineural
Exome Sequencing
Male
Female
India

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Pedigree

Sulfate Transporters

Child

Mutation, Missense

Genetic Variation

Cadherin Related Proteins

Genetic Predisposition to Disease

Child, Preschool

Adult

Adolescent

Source

Open in PubMed Open full text

Identifiers

PMID: 40928595
DOI: 10.1007/s11033-025-10996-0
PMCID: PMC12423145

Genes

CDH23
CLIC5
COL4A6
SLC26A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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