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Article

NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.

Journal of applied genetics - 1 Sept 2026

Niepokój Katarzyna, Rygiel Agnieszka Magdalena, Wertheim-Tysarowska Katarzyna, Sawicka Justyna, Dorożko Barbara, Grabarczyk Alicja, Obersztyn Ewa, Kutkowska-Kaźmierczak Anna, Klapecki Jakub, Barczyk Artur, Własienko Paweł, Jurczak Piotr, Lebiedzińska Aneta, Śmigiel Robert, Jakubiak Aleksandra, Wierzba Jolanta, Kaczorowska Ewa, Pietrzyk Aleksandra, Sorbaj-Sucharska Grażyna, Limon Janusz, Bal Jerzy

Abstract excerpt

The etiology of hearing loss (HL) is heterogeneous. It is estimated that 50-60% of the cases have a genetic background, with the other part being environmental. Isolated HL is responsible for nearly two-thirds of congenital cases, and the remaining part accounts for syndromic forms (SHL). The study aim was to examine the molecular basis of HL in 48 Polish patients with isolated, non-DFNB1 hearing loss using the...

Read the complete abstract on PubMed

Topics

Humans
Poland
Female
High-Throughput Nucleotide Sequencing

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

Male

Mutation

Hearing Loss

Child

Adolescent

Child, Preschool

Adult

Young Adult

Intercellular Signaling Peptides and Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 40796707
DOI: 10.1007/s13353-025-00991-3
PMCID: PMC13534204

Genes

STRC
CDH23
GATA3
MYO15A
MYO6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

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