{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:40:10Z","timestamp":1775306410712,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T00:00:00Z","timestamp":1574380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alstr\u00f6m syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the <jats:italic>ALMS1<\/jats:italic> (Alstr\u00f6m Syndrome 1) gene. A total of 21 subjects with AS from 20 unrelated Chinese families were recruited. Our cohort consists of 9 females and 12 males, between 5 months and 20\u2009years old. The first symptom(s) appeared between 3 and 24 months. They were recorded to be either visual impairments (83%) or dilated cardiomyopathy (17%). Median time from symptom onset to seeking medical attention was 6 months (3\u201336 months) and the median time needed to reach the final molecular diagnosis is 54 months (6\u2013240 months). System involvement at the time of the survey was as follows: visual symptoms (100%), hearing Impairment (67%), endocrine symptoms (43%), neurological symptoms (19%), hepatic symptoms (14%), and renal Involvement (14%). These findings are comparable to data reported in the literature. However, the proportion of subjects with cognitive impairment (33%) and behavioral problems (19%) were higher. Thirty\u2010three unique mutations were identified in the <jats:italic>ALMS1<\/jats:italic> gene,  of which 18 are novel mutations classified as pathogenic\/likely pathogenic according to the American College of Medical Genetics (ACMG) guideline. Four recurrent mutations were identified in the cohort, in particular; c.2084C&gt;A, p. (Ser695Ter), is suggestive to be a founder mutation in people of Chinese ancestry. The participation of AS subjects of differing ethnicities is essential to improve the algorithm in facial recognition\/phenotyping, as well as to understand the mutation spectrum beyond than just those of European ancestry.<\/jats:p>","DOI":"10.1002\/ajmg.a.61412","type":"journal-article","created":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T10:40:36Z","timestamp":1574419236000},"page":"279-288","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Phenotypic and mutational spectrum of 21 Chinese patients with Alstr\u00f6m syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5213-2588","authenticated-orcid":false,"given":"Kavitha","family":"Rethanavelu","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine The University of Hong Kong  Hong Kong China"},{"name":"Clinical Genetic Services Hospital Kuala Lumpur  Kuala Lumpur Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmine L. 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Y.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine The University of Hong Kong  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher C. Y.","family":"Mak","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine The University of Hong Kong  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4066-4066","authenticated-orcid":false,"given":"Ho M.","family":"Luk","sequence":"additional","affiliation":[{"name":"Department of Health Clinical Genetic Service  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian H. 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