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Article

Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.

American journal of medical genetics. Part A - 15 Jul 2004

Horiuchi Katsumi, Ariga Tadashi, Fujioka Hirotaka, Kawashima Kunihiro, Yamamoto Yuhei, Igawa Hiroharu, Sakiyama Yukio, Sugihara Tsuneki

Abstract excerpt

Treacher Collins syndrome (TCS) is caused by mutations in TCOF1 of the nonsense, small deletion, and small insertion types, which most likely result in haploinsufficiency. We report a novel de novo nonsense mutation 2731C --> T, resulting in Arg911Stop, which truncates the protein. Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation.

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Source

Identifiers

PMID: 15214011
DOI: 10.1002/ajmg.a.30038

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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