Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant.

Coffin-Siris syndrome (CSS) is a rare congenital disorder characterized by coarse facial features, intellectual disability or developmental delay, and aplasia or hypoplasia of the tips of the fifth finger and/or toes. Mutations in genes affecting the switch/sucrose non-fermenting ATP-dependent chromatin remodeling complex are reported to cause CSS. Here, we describe three CSS patients. Two girls aged 3 and 2 years old presented with global developmental delay, poor growth, and a dysmorphic face. Whole-exome sequencing (WES) was performed and they were diagnosed with CSS due to heterozygous frameshift variants (c.3443_3444del, p.Lys1148ArgfsTer9 and c.2869_2890del, p.Pro957CysfsTer20) in ARID1B A 2-year-old girl presented with gross motor delay and dysmorphic face. She was diagnosed with CSS due to a novel heterozygous frameshift variant (c.4942_4943del: p.Gln1648GlyfsTer8) in ARID2. © 2023 by the Association of Clinical Scientists, Inc.

Citation

Donghyun Shin, Yoo Jung Lee, Yoon Hee Jo, Juhyun Kong, Yun-Jin Lee, Sang Ook Nam, Bo Lyun Lee, Seung Hwan Oh, Young Mi Kim. Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant. Annals of clinical and laboratory science. 2023 Nov;53(6):959-963

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PMID: 38182156

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