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Article

A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.

Journal of molecular neuroscience : MN - 1 Dec 2023

Elbagoury Nagham M, Abdel-Aleem Asmaa F, Sharaf-Eldin Wessam E, Ashaat Engy A, Esswai Mona L

Abstract excerpt

Otofaciocervical syndrome (OTFCS) is a rare genetic disorder of both autosomal recessive and autosomal dominant patterns of inheritance. It is caused by biallelic or monoallelic mutations in PAX1 or EYA1 genes, respectively. Here, we report an OTFCS2 female patient of 1st consanguineous healthy parents. She manifested facial dysmorphism, hearing loss, intellectual disability (ID), and delayed language development...

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Identifiers

PMID: 37924468
DOI: 10.1007/s12031-023-02170-7
PMCID: PMC10754723

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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