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Article

A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.

American journal of medical genetics. Part A - 1 Aug 2009

Macaya D, Katsanis S H, Hefferon T W, Audlin S, Mendelsohn N J, Roggenbuck J, Cutting G R

Abstract excerpt

Interpretation of the pathogenicity of sequence alterations in disease-associated genes is challenging. This is especially true for novel alterations that lack obvious functional consequences. We report here on a patient with Treacher Collins syndrome (TCS) found to carry a previously reported mutation, c.122C > T, which predicts p.A41V, and a novel synonymous mutation, c.3612A > C. Pedigree analysis showed that...

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Identifiers

PMID: 19572402
DOI: 10.1002/ajmg.a.32834

Genes

TCOF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.PMID 19572402Read ↗

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A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.Semantic proximity Read ↗

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the geneSemantic proximity Read ↗

Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.Semantic proximity Read ↗

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