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Article

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.

International journal of molecular sciences - 6 Jan 2026

Baris Savas, Dogan Mustafa, Terali Kerem, Gezdirici Alper, Eroz Recep, Yucel Peren Perk, Kilic Huseyin, Yavas Cuneyd, Yildirim Gizem, Baris Ibrahim

Abstract excerpt

Neurodevelopmental disorders (NDDs) with ataxia are genetically heterogeneous and remain a diagnostic challenge. Recent advances in genomic technologies have facilitated the identification of rare, potentially causative variants in genes not traditionally associated with classic NDD phenotypes. The DNAH14 gene, encoding a dynein axonemal heavy chain involved in ciliary motility, has recently emerged as a novel...

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Identifiers

PMID: 41596228
DOI: 10.3390/ijms27020575
PMCID: PMC12841059

Genes

DNAH14
FXN
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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