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This syndrome is associated with variants in the <jats:italic>ALMS1<\/jats:italic> gene, which encodes a centrosome-associated protein involved in the regulation of several ciliary and extraciliary processes, such as centrosome cohesion, apoptosis, cell cycle control and receptor trafficking. The type of variant associated with ALMS is mostly complete loss-of-function variants (97%) and they are mainly located in exons 8, 10 and 16 of the gene. Other studies in the literature have tried to establish a genotype\u2013phenotype correlation in this syndrome with limited success. The difficulty in recruiting a large cohort in rare diseases is the main barrier to conducting this type of study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In this study we collected all cases of ALMS published to date. We created a database of patients who had a genetic diagnosis and an individualised clinical history. Lastly, we attempted to establish a genotype\u2013phenotype correlation using the truncation site of the patient\u2019s longest allele as a grouping criteria.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We collected a total of 357 patients, of whom 227 had complete clinical information, complete genetic diagnosis and meta-information on sex and age. We have seen that there are five variants with high frequency, with p.(Arg2722Ter) being the most common variant, with 28 alleles. No gender differences in disease progression were detected. Finally, truncating variants in exon 10 seem to be correlated with a higher prevalence of liver disorders in patients with ALMS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Pathogenic variants in exon 10 of the <jats:italic>ALMS1<\/jats:italic> gene were associated with a higher prevalence of liver disease. However, the location of the variant in the <jats:italic>ALMS1<\/jats:italic> gene does not have a major impact on the phenotype developed by the patient.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2023-109175","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T13:20:14Z","timestamp":1686835214000},"page":"18-26","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":19,"title":["Genotype\u2013phenotype associations in Alstr\u00f6m syndrome: a systematic review and meta-analysis"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1588-2897","authenticated-orcid":false,"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, Vigo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, Vigo, 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