Article
Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.
Molecular genetics & genomic medicine - 1 Sept 2026
Fan Feiyang, Chen Ying, Zhang Tianyu, Ma Jing
Abstract excerpt
BACKGROUND: Treacher Collins syndrome (TCS) is a congenital craniofacial disorder characterized by malar and mandibular hypoplasia, downward-slanting palpebral fissures, and conductive hearing loss. Pathogenic variants in TCOF1 account for most cases, with POLR1D, POLR1C, and POLR1B also implicated. METHODS: Whole-exome sequencing was performed in a two-generation Chinese family with TCS, followed by Sanger...
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- Humans
- Mandibulofacial Dysostosis
- Phosphoproteins
- Male
- Frameshift Mutation
- Nuclear Proteins
- Pedigree