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A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss.

Clinical genetics - 1 Feb 2025

Kazemi Negar, Rezvani Rezvandeh Raziye, Zare Ashrafi Farzane, Shokouhian Ebrahim, Edizadeh Masoud, Booth Kevin T A, Kahrizi Kimia, Najmabadi Hossein, Mohseni Marzieh

Abstract excerpt

Hearing loss (HL) is the most prevalent sensorineural disorders, affecting about one in 1000 newborns. Over half of the cases are attributed to genetic factors; however, due to the extensive clinical and genetic heterogeneity, many cases remain without a conclusive genetic diagnosis. The advent of next-generation sequencing methodologies in recent years has greatly helped unravel the genetic etiology of HL by...

Topics

Humans
Frameshift Mutation
Male
Pedigree
Female
Hearing Loss, Sensorineural
Iran
Exome Sequencing
Consanguinity
Phenotype
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child

Source

Identifiers

PMID: 39434538
DOI: 10.1111/cge.14635

Genes

TRIOBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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