Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.

doi:10.1002/mgg3.70295

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Article

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.

Molecular genetics & genomic medicine - 1 Sept 2026

Nevondwe Patracia, Mudau Maria, Seymour Heather, Kerr Robyn, Lombard Zané, Krause Amanda, Carstens Nadia

Abstract excerpt

BACKGROUND: Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterised by variable expressivity. It is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, or POLR1B genes. Common clinical features include hypoplasia of the zygomatic complex and mandible, downward-slanting palpebral fissures, lower eyelid anomalies, microtia, and hearing loss. Owing to its phenotypic overlap with other...

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Topics

Humans
Mandibulofacial Dysostosis
Nuclear Proteins
DNA-Directed RNA Polymerases
Phosphoproteins
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Child

South Africa

Child, Preschool

Mutation

Infant

Adolescent

Source

Open in PubMed Open full text

Identifiers

PMID: 42706666
DOI: 10.1002/mgg3.70295
PMCID: PMC13550757

Genes

TCOF1
POLR1D
POLR1C
POLR1B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 26 Oct 2026.

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