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Article

Population-Specific Mutational Spectrum of Autosomal Recessive Nonsyndromic Hearing Loss in Croatian Roma: Implications for Clinical Genetics.

Genes - 16 Apr 2026

Kutija Fučkar Iva, Zajc Petranović Matea, Martinović Klarić Irena, Peričić Salihović Marijana, Barać Lauc Lovorka

Abstract excerpt

BACKGROUND/OBJECTIVES: Hearing impairment is a highly prevalent sensory disorder resulting from a variety of causes. A high proportion of autosomal recessive non-syndromic hearing impairment is linked to the GJB2 (OMIM 121011) gene which encodes for a gap junction protein, connexin-26. Alterations of genes that encode for connexins can lead to changes in cell ion content and cause hearing impairment. METHODS:...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42074586
DOI: 10.3390/genes17040468
PMCID: PMC13116623

Genes

GJB2

Variants

rs111033196
rs72474224
rs111033186
rs104894396
rs111033186

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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