{Reference Type}: Case Reports
{Title}: Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant.
{Author}: Shin D;Lee YJ;Jo YH;Kong J;Lee YJ;Nam SO;Lee BL;Oh SH;Kim YM;
{Journal}: Ann Clin Lab Sci
{Volume}: 53
{Issue}: 6
{Year}: 2023 Nov
{Factor}: 1.18
{Abstract}: 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.