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

ABSTRACT 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 ad...

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Veröffentlicht in:	Clinical genetics 2025-02, Vol.107 (2), p.214-218
Hauptverfasser:	Kazemi, Negar, Rezvani Rezvandeh, Raziye, Zare Ashrafi, Farzane, Shokouhian, Ebrahim, Edizadeh, Masoud, Booth, Kevin T. A., Kahrizi, Kimia, Najmabadi, Hossein, Mohseni, Marzieh
Format:	Artikel
Sprache:	eng
Schlagworte:	ANKRD24 Child Cochlea Consanguinity Deafness Exome Sequencing Female Frameshift Mutation - genetics Genes Genetic factors Genetic Predisposition to Disease Genetic screening Hair cells Hearing loss Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - pathology High-Throughput Nucleotide Sequencing Homozygote Humans Iran Male Neonates non‐syndromic hearing loss novel gene Pedigree Phenotype Phenotypes whole exome sequencing Whole genome sequencing
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