{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T05:15:21Z","timestamp":1789103721903,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T00:00:00Z","timestamp":1699401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Alstr\u00f6m syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity. This study seeks to elucidate the genetic underpinnings of this syndrome within the Saudi Arabian population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Employing an extended family cohort, we conducted an exhaustive molecular genetic assessment to delineate the presence of Alstr\u00f6m syndrome. Additionally, we conducted an extensive review of existing literature from Saudi population to contextualize our findings within the broader understanding of the disorder in our country.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Within our studied extended family, we identified two individuals harboring the homozygous pathogenic mutation (c.2729C&gt;G) in the <jats:italic>ALMS1<\/jats:italic> gene [NM_015120.4:c.2729C&gt;G (p.Ser910*)]. Notably, carrier status was observed in the parents, whereas some siblings exhibited typical alleles while others were carriers of the mutation. Intriguingly, a review of the literature unveiled six distinct reports documenting a total of 20 Alstr\u00f6m syndrome patients within the Saudi Arabian population, each presenting with distinct novel mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In cases featuring cardiomyopathy, obesity, and progressive hearing and vision loss, Alstr\u00f6m syndrome merits inclusion within the differential diagnosis. To confirm the diagnosis, molecular genetic assessment of the <jats:italic>ALMS1<\/jats:italic> gene is imperative, offering definitive clarity amidst the complex clinical presentation. This investigation reinforces the importance of genetic scrutiny for precise diagnosis and highlights the unique genetic landscape of Alstr\u00f6m syndrome within the Saudi Arabian population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2314","type":"journal-article","created":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T13:08:55Z","timestamp":1699448935000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Unraveling Alstr\u00f6m syndrome: Homozygous mutation c.2729C&gt;G in <i>ALMS1<\/i> gene across an extended family"],"prefix":"10.1002","volume":"12","author":[{"given":"Salma A. S.","family":"Abosabie","sequence":"first","affiliation":[{"name":"Faculty of Medicine Julius\u2010Maximilians\u2010Universit\u00e4t W\u00fcrzburg  Wurzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara A.","family":"Abosabie","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaber","family":"Alfaifi","sequence":"additional","affiliation":[{"name":"Department of Child Health, College of Medicine University of Bisha  Bisha Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youssef A.","family":"Alqahtani","sequence":"additional","affiliation":[{"name":"Department of Child Health, College of Medicine King Khalid University  Abha Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayed A.","family":"Shati","sequence":"additional","affiliation":[{"name":"Department of Child Health, College of Medicine King Khalid University  Abha Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najmah A.","family":"Alotaibi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Alhada Armed Forces Hospital  Taif Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ohoud A.","family":"Alghamdi","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Taif University  Taif Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghadi N.","family":"Alotaibi","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Taif University  Taif Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman A.","family":"Baabdullah","sequence":"additional","affiliation":[{"name":"College of Medicine Umm Al\u2010Qura University  Makkah Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lama K.","family":"Kabrah","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Taif University  Taif Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8535-3838","authenticated-orcid":false,"given":"Naglaa M.","family":"Kamal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Hepatology, Kasralainy Faculty of Medicine  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A. M.","family":"Oshi","sequence":"additional","affiliation":[{"name":"Departement of Pediatrics Gaafar Ibnauf Children's Emergency Hospital  Khartoum Sudan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enas A. A.","family":"Abdallah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Hepatology, Kasralainy Faculty of Medicine  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.4103\/0256\u20104947.59381"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32753"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000006192"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2021.01113"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sjbs.2019.09.006"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2015.03.001"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.21037\/tp\u201021\u2010623"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246\u2010012\u20100296\u20106"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22796"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.85"},{"key":"e_1_2_11_12_1","volume-title":"GeneReviews\u00ae","author":"Paisey R. 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