{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T12:31:34Z","timestamp":1782909094771,"version":"3.54.5"},"reference-count":42,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T00:00:00Z","timestamp":1754438400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Biopas Mexico"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Alagille syndrome (ALGS) is a multisystem disorder characterized by a paucity of intrahepatic bile ducts and cholestasis, often requiring liver transplantation before adulthood. Due to the lack of genotype\u2013phenotype correlation, case series are essential to understand disease presentation and prognosis. Data on Mexican ALGS patients are limited. Therefore, we aimed to characterize a large series of Mexican patients by consolidating cases from major institutions and independent geneticists, with the goal of generating one of the most comprehensive cohorts in Latin America. We retrospectively analyzed clinical records of pediatric ALGS patients, focusing on demographics, clinical features, laboratory and imaging results, biopsy findings, and transplant status. Genetic testing was performed for all cases without prior molecular confirmation. We identified 52 ALGS cases over 13 years; 22 had available clinical records. Of these, only 6 had molecular confirmation at study onset, prompting genetic testing in the remaining 16. We identified six novel JAG1 variants and several previously unreported phenotypic features. A liver transplantation rate of 13% was observed in the cohort. This study represents the largest molecularly confirmed ALGS cohort in Mexico to date. Novel genetic and clinical findings expand the known spectrum of ALGS and emphasize the need for improved therapies, such as IBAT inhibitors, which may alleviate symptoms and reduce the need for transplantation.<\/jats:p>","DOI":"10.3390\/ijms26157626","type":"journal-article","created":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T15:09:53Z","timestamp":1754492993000},"page":"7626","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Retrospective Study of Clinical and Genetic Features in a Long-Term Cohort of Mexican Children with Alagille Syndrome"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1278-073X","authenticated-orcid":false,"given":"Rodrigo","family":"V\u00e1zquez-Frias","sequence":"first","affiliation":[{"name":"Subdirecci\u00f3n de Investigaci\u00f3n, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8836-8448","authenticated-orcid":false,"given":"Gustavo","family":"Varela-Fascinetto","sequence":"additional","affiliation":[{"name":"Departamento de Trasplantes, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Patricio","family":"Acosta-Rodr\u00edguez-Bueno","sequence":"additional","affiliation":[{"name":"Departamento de Gastroenterolog\u00eda, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra","family":"Consuelo","sequence":"additional","affiliation":[{"name":"Departamento de Gastroenterolog\u00eda, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel","family":"Carrillo","sequence":"additional","affiliation":[{"name":"Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6211-7843","authenticated-orcid":false,"given":"Magali","family":"Reyes-Apodaca","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n y Diagn\u00f3stico en Nefrolog\u00eda y Metabolismo Mineral \u00d3seo, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6602-5169","authenticated-orcid":false,"given":"Rodrigo","family":"Moreno-Salgado","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"L\u00f3pez-Valdez","sequence":"additional","affiliation":[{"name":"Centenario Hospital Miguel Hidalgo, Aguascalientes 20000, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7469-4303","authenticated-orcid":false,"given":"Elizabeth","family":"Hern\u00e1ndez-Ch\u00e1vez","sequence":"additional","affiliation":[{"name":"Servicio de Gastroenterolog\u00eda y Nutrici\u00f3n Pedi\u00e1trica, UMAE, Hospital de Pediatr\u00eda Centro M\u00e9dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara 44160, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Gonz\u00e1lez-Ortiz","sequence":"additional","affiliation":[{"name":"Hospital Pediatr\u00eda Centro M\u00e9dico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 F","family":"Cadena-Le\u00f3n","sequence":"additional","affiliation":[{"name":"Instituto Nacional de Pediatr\u00eda, Mexico City 04530, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvador","family":"Villalpando-Carri\u00f3n","sequence":"additional","affiliation":[{"name":"Departamento de Gastroenterolog\u00eda, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6320-4733","authenticated-orcid":false,"given":"Liliana","family":"Worona-Dibner","sequence":"additional","affiliation":[{"name":"Departamento de Gastroenterolog\u00eda, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6486-2804","authenticated-orcid":false,"given":"Valentina","family":"Mart\u00ednez-Montoya","sequence":"additional","affiliation":[{"name":"Biopas a Swixx BioPharma Company, Mexico City 11000, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arantza","family":"Cer\u00f3n-Mu\u00f1iz","sequence":"additional","affiliation":[{"name":"Aequitas Medica, Mexico City 03810, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-3415-6247","authenticated-orcid":false,"given":"Edgar","family":"Ram\u00edrez-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Aequitas Medica, Mexico City 03810, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Barrag\u00e1n-Ar\u00e9valo","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Mexico City 06720, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.2147\/TACG.S86420","article-title":"Alagille Syndrome: Clinical Perspectives","volume":"9","author":"Chitayat","year":"2016","journal-title":"Appl. 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Mutat."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/hep.32761","article-title":"Natural History of Liver Disease in a Large International Cohort of Children with Alagille Syndrome: Results from the GALA Study","volume":"77","author":"Vandriel","year":"2023","journal-title":"Hepatology"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Ayoub, M.D., and Kamath, B.M. (2020). Alagille Syndrome: Diagnostic Challenges and Advances in Management. Diagnostics, 10.","DOI":"10.3390\/diagnostics10110907"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Yan, J., Huang, Y., Cao, L., Dong, Y., Xu, Z., Wang, F., Gao, Y., Feng, D., and Zhang, M. (2024). Clinical, Pathological and Genetic Characteristics of 17 Unrelated Children with Alagille Syndrome. 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