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Article

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2014

Schaefer Elise, Collet Corinne, Genevieve David, Vincent Marie, Lohmann Dietmar R, Sanchez Elodie, Bolender Chantal, Eliot Marie-Madeleine, Nürnberg Gudrun, Passos-Bueno Maria-Rita, Wieczorek Dagmar, van Maldergem Lionel, Doray Bérénice

Abstract excerpt

PURPOSE: Treacher Collins syndrome is a mandibulofacial dysostosis caused by mutations in genes involved in ribosome biogenesis and synthesis. TCOF1 mutations are observed in ~80% of the patients and are inherited in an autosomal dominant manner. Recently, two other genes have been reported in <2% of patients--POLR1D in patients with autosomal dominant inheritance, and POLR1C in patients with autosomal recessive...

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Identifiers

PMID: 24603435
DOI: 10.1038/gim.2014.12

Genes

TCOF1

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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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