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Article: Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

TitlePhenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome
Authors
KeywordsALMS1
Alstrom syndrome
Chinese
Issue Date2020
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal of Medical Genetics Part A, 2020, v. 182 n. 2, p. 279-288 How to Cite?
AbstractAlström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström 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 years 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 (3–36 months) and the median time needed to reach the final molecular diagnosis is 54 months (6–240 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‐three unique mutations were identified in the ALMS1 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>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.
Persistent Identifierhttp://hdl.handle.net/10722/281232
ISSN
2019 Impact Factor: 2.125
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorRethanavelu, K-
dc.contributor.authorFung, JLF-
dc.contributor.authorCHAU, JFT-
dc.contributor.authorPei, SLC-
dc.contributor.authorCHUNG, CCY-
dc.contributor.authorMak, CCY-
dc.contributor.authorLuk, HM-
dc.contributor.authorChung, BHY-
dc.date.accessioned2020-03-09T09:51:54Z-
dc.date.available2020-03-09T09:51:54Z-
dc.date.issued2020-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2020, v. 182 n. 2, p. 279-288-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/281232-
dc.description.abstractAlström syndrome (AS) is a monogenic syndromic ciliopathy caused by mutations in the ALMS1 (Alström 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 years 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 (3–36 months) and the median time needed to reach the final molecular diagnosis is 54 months (6–240 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‐three unique mutations were identified in the ALMS1 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>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.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.-
dc.subjectALMS1-
dc.subjectAlstrom syndrome-
dc.subjectChinese-
dc.titlePhenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome-
dc.typeArticle-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.emailMak, CCY: ccymak@connect.hku.hk-
dc.identifier.emailLuk, HM: lukhm@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.61412-
dc.identifier.scopuseid_2-s2.0-85075448538-
dc.identifier.hkuros309270-
dc.identifier.volume182-
dc.identifier.issue2-
dc.identifier.spage279-
dc.identifier.epage288-
dc.identifier.isiWOS:000499738000001-
dc.publisher.placeUnited States-

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