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Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.

International journal of molecular sciences - 16 Feb 2026

Camarillo-Benitez Saul, Mendez-Catala Claudia Fabiola, Chima-Galan Maria Del Carmen, Rivera-Yañez Claudia Rebeca, Negrete-Torres Nancy, Arrieta Teyda Anaid, Alcantara-Torres Julio Raul, Méndez-Cruz Adolfo René, Mendoza-Ramos María Isabel, Tapia-Soto Norma Iliana, Garrido Efraín, Pedroza-Gonzalez Alexander, Garcia-Romo Gina Stella, Reyes-Reali Julia, Soto-Rojas Luis O, Pozo-Molina Glustein, Amato Dante

Abstract excerpt

Treacher Collins syndrome (TCS) is a rare disorder within the group of mandibulofacial dysostoses, occurring in 1 in 50,000 live births. It is characterized by anomalies in the maxillary, mandibular, and stapes bones, among others. TCS is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, and POLR1B genes with autosomal dominant or recessive inheritance patterns. Genetic data from Latin American...

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Identifiers

PMID: 41752027
DOI: 10.3390/ijms27041891
PMCID: PMC12941230

Genes

TCOF1
POLR1D
POLR1B
POLR1C

Variants

Provenance

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Related research

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Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.PMID 41752027Read ↗

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