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

Ann Clin Lab Sci. 2023 Nov;53(6):959-963.

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.

Keywords: ARID1B; ARID2; Coffin-Siris syndrome; Developmental delay; Intellectual disability.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Child, Preschool
  • Face
  • Facies
  • Female
  • Frameshift Mutation / genetics
  • Humans
  • Transcription Factors / genetics

Substances

  • ARID2 protein, human
  • Transcription Factors

Supplementary concepts

  • Coffin-Siris syndrome