Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome

Cheng Shirley S. W.; Luk Ho-Ming; Mok Myth Tsz-Shun; Leung Sha-Sha; Lo Ivan F. M.

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Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome

机译：18例中国棺材综合征18例中国患者的基因型和表型

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Coffin-Siris 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-associated 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 ARIDIB (OMIM*614556) variants and one with SMARCB1 (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 ARID1B variants were reviewed. Among the 19 Chinese patients with ARID1B 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-dependent phenotypic presentation of CSS and ethnicity-related effect on ARID1B-CSS phenotype. Moreover, this series included the first family with molecularly confirmed maternal somatic mosaicism of ARID1B variant leading to familial CSS recurrence.

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来源
《American journal of medical genetics, Part A》 |2021年第7期|共12页
作者
Cheng Shirley S. W.; Luk Ho-Ming; Mok Myth Tsz-Shun; Leung Sha-Sha; Lo Ivan F. M.;
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作者单位

HKSAR Clin Genet Serv Dept Hlth Hong Kong Peoples R China;

HKSAR Clin Genet Serv Dept Hlth Hong Kong Peoples R China;

HKSAR Clin Genet Serv Dept Hlth Hong Kong Peoples R China;

HKSAR Clin Genet Serv Dept Hlth Hong Kong Peoples R China;

HKSAR Clin Genet Serv Dept Hlth Hong Kong Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
ARID1B; BAF complex; Chinese; Coffinamp; 8208; Siris syndrome; SMARCB1;

机译：ARID1B;BAF综合体;中文;棺材＆amp;8208;siris综合征;smarcb1;

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Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome

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