Coffin-Siris Syndrome 4 is an autosomal dominant congenital malformation syndrome caused by heterozygous mutations in the SMARCA4 gene with its main features being intellectual disability, developmental delay, behavioral abnormalities, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Here, we report a young woman with developmental delay, moderate intellectual disability, and bilateral sensorineural hearing loss, referred for genetic testing. High-resolution chromosomal microarray analysis identified a 428-kb deletion in chromosome 19 which included the SMARCA4 gene. We conclude that haploinsufficiency of SMARCA4 may be a valid pathophysiological mechanism leading to milder Coffin-Siris syndrome phenotypes.
Mol Syndromol

中文翻译：

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由高分辨率aCGH检测到的杂合SMARCA4缺失引起的一名年轻女子的棺材-Siris综合征4相关光谱。

Coffin-Siris综合征4是由SMARCA4基因的杂合突变引起的常染色体显性先天性畸形综合征，其主要特征是智力残疾，发育迟缓，行为异常以及发育不良或缺乏第五指指甲和第五指骨。在这里，我们报道了一名发育迟缓，中度智力残疾和双侧感觉神经性听力减退的年轻妇女，被转基因检测。高分辨率染色体微阵列分析鉴定出19号染色体上428kb的缺失，其中包括SMARCA4基因。我们得出结论，SMARCA4的单倍不足可能是导致较轻的Coffin-Siris综合征表型的有效病理生理机制。
摩尔综合症