{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T12:22:48Z","timestamp":1784982168212,"version":"3.55.0"},"reference-count":91,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T00:00:00Z","timestamp":1771200000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005739","name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico","doi-asserted-by":"crossref","award":["IN226023"],"award-info":[{"award-number":["IN226023"]}],"id":[{"id":"10.13039\/501100005739","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 populations remain scarce. Eleven patients from three different families were recruited. Whole-exome sequencing (WES) was performed on the probands to identify genetic variants, followed by Sanger sequencing for variant validation and familial segregation analysis. Finally, three-dimensional protein structures of wild-type and mutant proteins were predicted. In Family 1, a heterozygous pathogenic splice-site variant in the TCOF1 gene, c.4345 + 1 G &gt; A, was identified and inherited from her mother. In Family 2, a heterozygous pathogenic variant in the TCOF1 gene, c.226_227insC (p.R77fs), was identified and inherited from the paternal lineage. In Family 3, a heterozygous pathogenic POLR1D variant, c.290_291delAG (p.G99fs), was identified among multiple affected relatives; direct parent-of-origin could not be established due to unavailability of one parent, but segregation supports autosomal dominant transmission across three generations. All findings were validated by Sanger sequencing. Our findings highlight the utility of WES for the molecular diagnosis of TCS and underscore the importance of including underrepresented populations in genetic studies to improve diagnosis, genetic counseling, and perinatal planning in at-risk pregnancies.<\/jats:p>","DOI":"10.3390\/ijms27041891","type":"journal-article","created":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T10:14:32Z","timestamp":1771236872000},"page":"1891","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families"],"prefix":"10.3390","volume":"27","author":[{"given":"Saul","family":"Camarillo-Benitez","sequence":"first","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Laboratorio 5, Edificio A4, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3444-1085","authenticated-orcid":false,"given":"Claudia Fabiola","family":"Mendez-Catala","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Laboratorio 5, Edificio A4, Tlalnepantla 54090, Mexico"},{"name":"Divisi\u00f3n de Investigaci\u00f3n y Posgrado, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria del Carmen","family":"Chima-Galan","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica M\u00e9dica, Centro M\u00e9dico Nacional \u201c20 de Noviembre\u201d, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Ciudad de Mexico 03229, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3307-006X","authenticated-orcid":false,"given":"Claudia Rebeca","family":"Rivera-Ya\u00f1ez","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Laboratorio 5, Edificio A4, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Negrete-Torres","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Laboratorio 5, Edificio A4, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teyda Anaid","family":"Arrieta","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Laboratorio 5, Edificio A4, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio Raul","family":"Alcantara-Torres","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Laboratorio 5, Edificio A4, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4231-1961","authenticated-orcid":false,"given":"Adolfo Ren\u00e9","family":"M\u00e9ndez-Cruz","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunolog\u00eda, Unidad de Morfofisiolog\u00eda y Funci\u00f3n, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Isabel","family":"Mendoza-Ramos","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunolog\u00eda, Unidad de Morfofisiolog\u00eda y Funci\u00f3n, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma Iliana","family":"Tapia-Soto","sequence":"additional","affiliation":[{"name":"Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Efra\u00edn","family":"Garrido","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8890-7656","authenticated-orcid":false,"given":"Alexander","family":"Pedroza-Gonzalez","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunolog\u00eda, Unidad de Morfofisiolog\u00eda y Funci\u00f3n, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina Stella","family":"Garcia-Romo","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunolog\u00eda, Unidad de Morfofisiolog\u00eda y Funci\u00f3n, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Reyes-Reali","sequence":"additional","affiliation":[{"name":"Laboratorio de Inmunolog\u00eda, Unidad de Morfofisiolog\u00eda y Funci\u00f3n, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5013-3608","authenticated-orcid":false,"given":"Luis O.","family":"Soto-Rojas","sequence":"additional","affiliation":[{"name":"Laboratorio de Investigaci\u00f3n en Neurociencias y Enfermedades Neurodegenerativas (LINEN), Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4675-4081","authenticated-orcid":false,"given":"Glustein","family":"Pozo-Molina","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Laboratorio 5, Edificio A4, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dante","family":"Amato","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Oncolog\u00eda Molecular, Carrera de M\u00e9dico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Laboratorio 5, Edificio A4, Tlalnepantla 54090, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Mehandziska, S., Stajkovska, A., Stavrevska, M., Jakovleva, K., Janevska, M., Rosalia, R., Kungulovski, I., Mitrev, Z., and Kungulovski, G. 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