Department of Translational Medicine, Federico II University, Naples, Italy.
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Mol Genet Genomic Med. 2019 Jun;7(6):e682. doi: 10.1002/mgg3.682. Epub 2019 Apr 11.
Coffin-Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes. CSS is caused by mutations in several genes of the BRG1-associated factor pathway including SMARCA4.
Whole-exome sequencing was performed on a 14-year-old female individual who presented with mild intellectual disability and dysmorphic features, tooth abnormalities, and short stature. She had brachydactyly but no aplasia or hypoplasia of the distal phalanx or nail of the fifth digit. She was also found to have retinal dystrophy that has not been previously reported in CSS.
The individual presented herein was found to harbor a previously unreported de novo variant in SMARCA4.
This case expands the phenotypic spectrum of CSS manifestations.
卡芬-西里综合征（CSS）的特征为智力障碍、容貌异常、生长发育不良、小头畸形和第五指/趾异常。CSS 是由 BRG1 相关因子通路的几个基因（包括 SMARCA4）突变引起的。
对一名 14 岁的女性个体进行了全外显子组测序，该个体表现为轻度智力障碍和容貌异常、牙齿异常和身材矮小。她存在短指畸形，但无第五指远节指骨或指甲缺如或发育不良。此外，她还患有视网膜营养不良，这在 CSS 中尚未有过报道。
本文报告的个体携带一个以前未报道的 SMARCA4 新生杂合变异。
该病例扩展了 CSS 表现的表型谱。
