PDF(Pubmed)
Abstract：
Coffin-Siris syndrome is an autosomal dominant disorder with neurological, cardiovascular, and gastrointestinal symptoms. Patients with Coffin-Siris syndrome typically have variable degree of developmental delay or intellectual disability, muscular hypotonia, dysmorphic facial features, sparse scalp hair, but otherwise hirsutism and fifth digit nail or distal phalanx hypoplasia or aplasia. Coffin-Siris syndrome is caused by pathogenic variants in 12 different genes including SMARCB1 and ARID1A. Pathogenic SMARCB1 gene variants cause Coffin-Siris syndrome 3 whereas pathogenic ARID1A gene variants cause Coffin-Siris syndrome 2. Here, we present two prenatal Coffin-Siris syndrome cases with autosomal dominant pathogenic variants: SMARCB1 gene c.1066_1067del, p.(Leu356AspfsTer4) variant, and a novel ARID1A gene c.1920+3_1920+6del variant. The prenatal phenotype in Coffin-Siris syndrome has been rarely described. This article widens the phenotypic spectrum of prenatal Coffin-Siris syndrome with severely hypoplastic right ventricle with VSD and truncus arteriosus type III, persisting left superior and inferior caval vein, bilateral olfactory nerve aplasia, and hypoplastic thymus. A detailed clinical description of the patients with ultrasound, MRI, and post mortem pictures of the affected fetuses showing the wide phenotypic spectrum of the disease is presented.
摘要：
Coffin-Siris综合征是一种常染色体显性遗传的神经系统疾病，心血管,和胃肠道症状。Coffin-Siris综合征患者通常有不同程度的发育迟缓或智力障碍，肌张力减退,畸形面部特征，稀疏的头皮头发，但其他多毛症和第五指甲或远端指骨发育不全或发育不全。Coffin-Siris综合征是由包括SMARCB1和ARID1A在内的12种不同基因的致病变异引起的。致病性SMARCB1基因变异导致Coffin-Siris综合征3，而致病性ARID1A基因变异导致Coffin-Siris综合征2。这里,我们提出了两个产前Coffin-Siris综合征病例，具有常染色体显性致病变异：SMARCB1基因c.1066_1067del，p.(Leu356AspfsTer4)变体，和一个新的ARID1A基因c.1920+3_1920+6del变体。很少描述Coffin-Siris综合征的产前表型。本文扩大了产前Coffin-Siris综合征的表型谱，伴有严重增生的右心室伴VSD和III型动脉干，坚持左上下腔静脉，双侧嗅神经发育不全,和发育不良的胸腺.对超声检查的患者进行详细的临床描述，MRI,并提供了受影响胎儿的验尸照片，显示了该疾病的广泛表型。
