{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:53:57Z","timestamp":1790016837763,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T00:00:00Z","timestamp":1616716800000},"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":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Coffin\u2010Siris syndrome (CSS, MIM# 1359200) is a multisystem congenital disorder characterized by coarse facial features, hypoplasia of the fifth digits and nails, and intellectual disability. It is a genetically heterogeneous condition caused by pathogenic variants in genes encoding proteins of the BAF (BRG1\u2010associated factors) chromatin modeling complex and its downstream transcriptional factor. To date over 220 CSS individuals with pathogenic variants found have been described in the literature. This case series reported 18 molecularly confirmed Chinese individuals (17 with <jats:italic>ARIDIB<\/jats:italic> (OMIM*614556) variants and one with <jats:italic>SMARCB1<\/jats:italic> (OMIM*601607) variant) from 17 unrelated families in Hong Kong. The clinical features of these 18 Chinese CSS patients together with two previously reported Chinese patients with <jats:italic>ARID1B<\/jats:italic> variants were reviewed. Among the 19 Chinese patients with <jats:italic>ARID1B<\/jats:italic> variants, our data suggested a lower prevalence of feeding problem, autistic features, agenesis of corpus callosum (ACC) or partial\/hypoplasia of corpus callosum, and sparse hair when compared with previous reports. There was appearing higher prevalence of digital hypoplasia. Digital hypoplasia was observed to become less noticeable with time in some patients. This report highlighted the age\u2010dependent phenotypic presentation of CSS and ethnicity\u2010related effect on <jats:italic>ARID1B<\/jats:italic>\u2010CSS phenotype. Moreover, this series included the first family with molecularly confirmed maternal somatic mosaicism of <jats:italic>ARID1B<\/jats:italic> variant leading to familial CSS recurrence.<\/jats:p>","DOI":"10.1002\/ajmg.a.62187","type":"journal-article","created":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T08:31:48Z","timestamp":1616747508000},"page":"2250-2261","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genotype and phenotype in 18 Chinese patients with <scp>Coffin\u2010Siris<\/scp> syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9923-7424","authenticated-orcid":false,"given":"Shirley S. 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M.","family":"Lo","sequence":"additional","affiliation":[{"name":"Clinical Genetic Service, Department of Health HKSAR  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37405"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1757-z"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050435009"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.007"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31407"},{"issue":"1","key":"e_1_2_10_7_1","first-page":"140","article-title":"First Korean case of Coffin\u2010Siris syndrome with a novel frameshift ARID1B mutation","volume":"50","author":"Lee B. 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