Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

Congenit Anom (Kyoto). 2020 Nov;60(6):189-193. doi: 10.1111/cga.12383. Epub 2020 Jul 30.

Abstract

Coffin-Siris syndrome (CSS) is a congenital anomaly syndrome characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanges. Herein, we report a case of the 8-year-old female patient who showed developmental delay associated with dysplasia in the macular and large toe area. Comprehensive genomic analysis showed no possible candidate variants, but the subsequent genomic copy number analysis revealed a novel exonic deletion in the coding region of AT-rich interactive domain-containing protein 1B (ARID1B), a gene responsible for CSS. Genomic copy number analysis can aid in diagnosing CSS by confirming undiagnosed exonic deletions in ARID1B. Furthermore, this is the first report of CSS associated with bilateral macular dysplasia.

Keywords: ARID1B; Coffin-Siris syndrome; exonic deletion; macular dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Child
  • DNA-Binding Proteins / genetics*
  • Exons*
  • Face / abnormalities*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Macula Lutea / abnormalities*
  • Micrognathism / diagnosis*
  • Micrognathism / genetics*
  • Neck / abnormalities*
  • Phenotype*
  • Sequence Deletion*
  • Transcription Factors / genetics*

Substances

  • ARID1B protein, human
  • DNA-Binding Proteins
  • Transcription Factors

Supplementary concepts

  • Coffin-Siris syndrome