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Article

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

American journal of medical genetics. Part A - 1 Jun 2014

Faqeih Eissa A, Al-Owain Mohammed, Colak Dilek, Kenana Rosan, Al-Yafee Yusra, Al-Dosary Mazhor, Al-Saman Abdulaziz, Albalawi Fadwa, Al-Sarar Dalia, Domiaty Dalia, Daghestani Maha, Kaya Namik

Abstract excerpt

DEAF1 encodes a transcriptional binding factor and is a regulator of serotonin receptor 1A. Its protein has a significant expression in the neurons of different brain regions and is involved in early embryonic development. In addition, its role in neural tube development is evident from the knockout mouse as many homozygotes have exencephaly. Heterozygous mutations of this gene have been linked to intellectual...

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Source

Identifiers

PMID: 24668509
DOI: 10.1002/ajmg.a.36482

Genes

DEAF1

Variants

Provenance

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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Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.PMID 24668509Read ↗

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