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Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.

Birth defects research - 1 Jun 2022

Ruaud Lyse, Roux Nathalie, Boutaud Lucile, Bessières Bettina, Ageorges Faustine, Achaiaa Amale, Bole Christine, Nitschke Patrick, Masson Cécile, Vekemans Michel, Verloes Alain, Attie-Bitach Tania

Abstract excerpt

BACKGROUND: The THOC6 protein is a component of the THO complex. It is involved in mRNA transcription, processing and nuclear export. Interestingly molecular biallelic loss-of-function variants of the THOC6 gene were identified in the Beaulieu-Boycott-Innes syndrome (BBIS- OMIM # 613680). This condition was described in 17 patients and is characterized by a moderate to severe intellectual disability, facial...

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PMID: 35426486
DOI: 10.1002/bdr2.2011

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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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