{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T07:52:32Z","timestamp":1766908352340,"version":"build-2065373602"},"reference-count":27,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,2,16]],"date-time":"2021-02-16T00:00:00Z","timestamp":1613433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"publisher","award":["ED431G-2019\/06","ED431C-2018\/54"],"award-info":[{"award-number":["ED431G-2019\/06","ED431C-2018\/54"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI15\/00049","PI19\/00332"],"award-info":[{"award-number":["PI15\/00049","PI19\/00332"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003176","name":"Ministerio de Educaci\u00f3n, Cultura y Deporte","doi-asserted-by":"publisher","award":["FPU17\/01567","FPU19\/00175"],"award-info":[{"award-number":["FPU17\/01567","FPU19\/00175"]}],"id":[{"id":"10.13039\/501100003176","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Alstr\u00f6m syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alstr\u00f6m syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated cardiomyopathy (DCM), neurodegenerative disorders and multiorgan fibrosis. We refined the clinical and genetic diagnosis data of 12 patients from 11 families, all of them from Spain. We also studied the allelic frequency of the different variants present in this cohort and performed a haplotype analysis for the most prevalent allele. The genetic analysis revealed 2 novel homozygous variants located in the exon 8, p.(Glu929Ter) and p.(His1808GlufsTer20) in 2 unrelated patients. These 2 novel variants were classified as pathogenic after an in silico experiment (computer analysis). On the other hand, 2 alleles were detected at a high frequency in our cohort: p.(Tyr1714Ter) (25%) and p.(Ser3872TyrfsTer19) (16.7%). The segregation analysis showed that the pathogenic variant p.(Tyr1714Ter) in 3 families is linked to a rare missense polymorphism, p.(Asn1787Asp). In conclusion, 2 novel pathological mutations have been discovered in homozygosis, as well as a probable founder effect in 3 unrelated families.<\/jats:p>","DOI":"10.3390\/genes12020282","type":"journal-article","created":{"date-parts":[[2021,2,16]],"date-time":"2021-02-16T22:13:38Z","timestamp":1613513618000},"page":"282","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Prevalent ALMS1 Pathogenic Variants in Spanish Alstr\u00f6m Patients"],"prefix":"10.3390","volume":"12","author":[{"given":"Brais","family":"Bea-Mascato","sequence":"first","affiliation":[{"name":"CINBIO, Universidad de Vigo, 36310 Vigo, Spain"},{"name":"Grupo de Investigaci\u00f3n en Enfermedades Raras y Medicina Pedi\u00e1trica, Instituto de Investigaci\u00f3n Sanitaria Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, 36310 Vigo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3726-7924","authenticated-orcid":false,"given":"Carlos","family":"Solarat","sequence":"additional","affiliation":[{"name":"CINBIO, Universidad de Vigo, 36310 Vigo, Spain"},{"name":"Grupo de Investigaci\u00f3n en Enfermedades Raras y Medicina Pedi\u00e1trica, Instituto de Investigaci\u00f3n Sanitaria Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, 36310 Vigo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Perea-Romero","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain"},{"name":"Departamento de Gen\u00e9tica Cl\u00ednica, Instituto de Investigaci\u00f3n Sanitaria Hospital Universitario Fundaci\u00f3n Jim\u00e9nez D\u00edaz, (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Jaijo","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain"},{"name":"Unidad de Gen\u00e9tica, Hospital Universitario y Polit\u00e9cnico La Fe. Biomedicina Molecular Celular y Gen\u00f3mica, Instituto Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiona","family":"Blanco-Kelly","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain"},{"name":"Departamento de Gen\u00e9tica Cl\u00ednica, Instituto de Investigaci\u00f3n Sanitaria Hospital Universitario Fundaci\u00f3n Jim\u00e9nez D\u00edaz, (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-9129","authenticated-orcid":false,"given":"Jos\u00e9 M.","family":"Mill\u00e1n","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain"},{"name":"Unidad de Gen\u00e9tica, Hospital Universitario y Polit\u00e9cnico La Fe. Biomedicina Molecular Celular y Gen\u00f3mica, Instituto Investigaci\u00f3n Sanitaria La Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9242-7065","authenticated-orcid":false,"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain"},{"name":"Departamento de Gen\u00e9tica Cl\u00ednica, Instituto de Investigaci\u00f3n Sanitaria Hospital Universitario Fundaci\u00f3n Jim\u00e9nez D\u00edaz, (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Valverde","sequence":"additional","affiliation":[{"name":"CINBIO, Universidad de Vigo, 36310 Vigo, Spain"},{"name":"Grupo de Investigaci\u00f3n en Enfermedades Raras y Medicina Pedi\u00e1trica, Instituto de Investigaci\u00f3n Sanitaria Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, 36310 Vigo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<150::AID-AJMG9>3.0.CO;2-Y","article-title":"Genealogy, natural history, and phenotype of Alstr\u00f6m syndrome in a large Acadian kindred and three additional families","volume":"73","author":"Marshall","year":"1997","journal-title":"Am. 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Rare Dis."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/2\/282\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:24:56Z","timestamp":1760160296000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/2\/282"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,16]]},"references-count":27,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,2]]}},"alternative-id":["genes12020282"],"URL":"https:\/\/doi.org\/10.3390\/genes12020282","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2021,2,16]]}}}