{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T10:45:14Z","timestamp":1791801914153,"version":"4.3.4"},"reference-count":25,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004881","name":"Instituto Mexicano del Seguro Social","doi-asserted-by":"publisher","award":["R-2022-785-001"],"award-info":[{"award-number":["R-2022-785-001"]}],"id":[{"id":"10.13039\/501100004881","id-type":"DOI","asserted-by":"publisher"}]},{"award":["R-2022-785-001"],"award-info":[{"award-number":["R-2022-785-001"]}],"id":[{"id":"https:\/\/ror.org\/03xddgg98","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. J. Mol. Sci.","IJMS"],"abstract":"<jats:p>Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia caused by variants in RMRP (RNA component of mitochondrial RNA processing endoribonuclease), which encodes a non-coding RNA. Despite its well-established clinical and molecular spectrum in some populations, data from Mexico remain limited. We report eight patients from seven unrelated families with CHH. Clinical and radiographic findings were assessed, and RMRP was analyzed by polymerase chain reaction and Sanger sequencing. All patients exhibited disproportionate short stature; prenatal long-bone shortening and short stature at birth occurred in 50%. Radiographs showed widened long bones and metaphyseal dysplasia in all patients. Extraskeletal manifestations were observed in four patients, each with a distinct feature: immunodeficiency, anemia, Hirschsprung disease, or lymphopenia. RMRP variants were identified in all patients, comprising two homozygous and six compound heterozygous genotypes. Eight variants were detected: three pathogenic (n.6C&gt;T, n.147G&gt;A, and n.72A&gt;G), two likely pathogenic (n.127C&gt;T and n.125C&gt;T), two variants of uncertain significance (n.128G&gt;C and n.215C&gt;T), and a novel promoter deletion (n.-39_-19del) encompassing the RMRP TATA box, classified as likely pathogenic according to the ClinGen RMRP variant interpretation specifications (GN088, Version 1.3). This study expands the clinical and molecular spectrum of CHH in the Mexican population and provides additional evidence for RMRP variant interpretation.<\/jats:p>","DOI":"10.3390\/ijms27198815","type":"journal-article","created":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T09:10:48Z","timestamp":1790932248000},"page":"8815","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Clinical and Molecular Spectrum of Cartilage-Hair Hypoplasia in the Mexican Population"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1036-3249","authenticated-orcid":false,"given":"Kiabeth","family":"Robles-Espinoza","sequence":"first","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico"},{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud, University of Guadalajara (UdeG), Sierra Mojada 950, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"},{"role":"methodology","vocabulary":"credit"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6451-0366","authenticated-orcid":false,"given":"Eduardo","family":"Esparza-Garc\u00eda","sequence":"additional","affiliation":[{"name":"UMAE Hospital de Pediatr\u00eda del Centro M\u00e9dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Av. Belisario Dom\u00ednguez 735, La Perla, Guadalajara 44360, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"},{"role":"data-curation","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"}]},{"given":"Jorge Rom\u00e1n","family":"Corona-Rivera","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit\u2014\u2018Dr. Enrique Corona-Rivera\u2019 Institute of Human Genetics, \u2018Dr. Juan I. Menchaca\u2019 Civil Hospital of Guadalajara (HCG), Guadalajara 44340, Jalisco, Mexico"},{"name":"Health Sciences University Center (CRIAC HCG\u2014UdeG), University of Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"},{"role":"writing-review-editing","vocabulary":"credit"},{"role":"data-curation","vocabulary":"credit"}]},{"given":"Mariana","family":"P\u00e9rez-Coria","sequence":"additional","affiliation":[{"name":"UMAE Hospital de Pediatr\u00eda del Centro M\u00e9dico Nacional de Occidente, Instituto Mexicano del Seguro Social, Av. Belisario Dom\u00ednguez 735, La Perla, Guadalajara 44360, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"},{"role":"writing-review-editing","vocabulary":"credit"},{"role":"data-curation","vocabulary":"credit"}]},{"given":"Perla Graciela","family":"Rodr\u00edguez-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Ram\u00f3n","family":"Gonz\u00e1lez Garc\u00eda","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico"},{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud, University of Guadalajara (UdeG), Sierra Mojada 950, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9843-0644","authenticated-orcid":false,"given":"Mar\u00eda Teresa","family":"Maga\u00f1a-Torres","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"},{"role":"conceptualization","vocabulary":"credit"},{"role":"methodology","vocabulary":"credit"},{"role":"formal-analysis","vocabulary":"credit"},{"role":"investigation","vocabulary":"credit"},{"role":"resources","vocabulary":"credit"},{"role":"writing-review-editing","vocabulary":"credit"},{"role":"funding-acquisition","vocabulary":"credit"},{"role":"project-administration","vocabulary":"credit"},{"role":"writing-original-draft","vocabulary":"credit"}]}],"member":"1968","published-online":{"date-parts":[[2026,10,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/BF01956147","article-title":"Cartilage-Hair Hypoplasia-Clinical Manifestations in 108 Finnish Patients","volume":"152","author":"Kaitila","year":"1993","journal-title":"Eur. 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Mutat."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/19\/8815\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T09:52:50Z","timestamp":1791798770000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/19\/8815"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,2]]},"references-count":25,"journal-issue":{"issue":"19","published-online":{"date-parts":[[2026,10]]}},"alternative-id":["ijms27198815"],"URL":"https:\/\/doi.org\/10.3390\/ijms27198815","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,2]]}}}