{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T09:34:46Z","timestamp":1770284086779,"version":"3.49.0"},"reference-count":0,"publisher":"Termedia Sp. z.o.o.","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Med Sci"],"published-print":{"date-parts":[[2020,11,5]]},"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Alstr\u00f6m syndrome, ALMS (OMIM 203800) is a\u00a0rare multi-systemic disease. The characteristic clinical features include blindness due to progressive cone-rod dystrophy, sensorineural hearing loss, type 2 diabetes mellitus, dilated cardiomyopathy, and childhood obesity. The aim of this study was to identify the genetic cause of Alstr\u00f6m syndrome in patients who presented with variable clinical characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p>Clinical phenotyping and whole exome sequencing were performed in Saudi Alstr\u00f6m syndrome patients. The Sanger sequencing was done to ascertain the segregation of Alstr\u00f6m syndrome causative mutation in the family members. The rare prevalence of this mutation was further established by sequencing an additional 100 healthy Saudi controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole exome sequencing analysis revealed that Alstr\u00f6m syndrome patients have inherited a\u00a0novel homozygous protein truncating mutation (c.2938dupA) in the ALMS1 gene segregated in an autosomal recessive fashion. This variant was absent in healthy controls. Genotype-phenotype analysis showed its interesting association with intra-familial clinical variability with regards to vision abnormalities, age at onset of dilated cardiomyopathy (DCM), obesity and hearing loss symptoms in the Alstr\u00f6m syndrome patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings indicate that the atypical presentation of Alstr\u00f6m syndrome, even within siblings, could sometimes lead to clinical misdiagnosis. Hence, the present study emphasizes the utility of exome sequencing to support the clinical diagnosis of Alstr\u00f6m syndrome patients.<\/jats:p><\/jats:sec>","DOI":"10.5114\/aoms.2020.100635","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T14:01:42Z","timestamp":1604584902000},"source":"Crossref","is-referenced-by-count":5,"title":["A novel homozygous ALMS1 protein truncation\nmutation (c.2938dupA) revealed variable clinical\nexpression among Saudi Alstr\u00f6m syndrome patients"],"prefix":"10.5114","author":[{"given":"Amnah Yousuf","family":"Bdier","sequence":"first","affiliation":[{"name":"Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faten Abdullah","family":"Al-Qahtani","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Department of Clinical Laboratory Science, Prince Sultan Military College of Health Science, Dammam, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashant","family":"Kumar Verma","sequence":"additional","affiliation":[{"name":"Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Department of Genetic Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naeem Abdulmoneem","family":"Alshoaibi","sequence":"additional","affiliation":[{"name":"Department of Cardiology, National University Heart Center and Cardiovascular Research Institute, National University of Singapore, Singapor"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuha","family":"Mohammed Alrayes","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Sciences, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noor Ahmad","family":"Shaik","sequence":"additional","affiliation":[{"name":"Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Department of Genetic Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger Sik Yin","family":"Foo","sequence":"additional","affiliation":[{"name":"Department of Cardiology, National University Heart Center and Cardiovascular Research Institute, National University of Singapore, Singapor"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahurul Alam","family":"Bhuiyan","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Recherche Cardiog\u00e9n\u00e9tique, Service de M\u00e9decine G\u00e9n\u00e9tique, Centre Hospitalier Universitaire Vaudois (CHUV), Lusanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jumana Y.","family":"Al-Aama","sequence":"additional","affiliation":[{"name":"Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"Department of Genetic Medicine, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3061","published-online":{"date-parts":[[2020,11,5]]},"container-title":["Archives of Medical Science"],"original-title":[],"link":[{"URL":"https:\/\/www.archivesofmedicalscience.com\/pdf-127368-60702","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.archivesofmedicalscience.com\/pdf-127368-60702","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T14:16:07Z","timestamp":1635516967000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.archivesofmedicalscience.com\/A-novel-homozygous-ALMS1-protein-truncation-r-nmutation-c-2938dupA-revealed-variable,127368,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,5]]},"references-count":0,"alternative-id":["127368"],"URL":"https:\/\/doi.org\/10.5114\/aoms.2020.100635","relation":{},"ISSN":["1734-1922","1896-9151"],"issn-type":[{"value":"1734-1922","type":"print"},{"value":"1896-9151","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,5]]}}}