A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B

Neuro Endocrinol Lett. 2021 Jan;41(6):285-289.


Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. We report the clinical and molecular findings in a patient with Coffin-Siris syndrome. A 3-year-and-6-month-old boy presented with developmental delay, distinctive facial features, hypertrichosis, partial agenesis of the corpus callosum, fifth digit nail hypoplasia, congenital anomalies, and growth retardation. Targeted gene panel sequencing identified a novel heterozygous frameshift mutation c.2147_2148insAC in ARID1B which was predicted as a premature stop codon p. (Gln717Argfs*29). This is the second report of Coffin-Siris syndrome in Korea. Targeted gene panel sequencing can be used as an effective tool for the diagnosis of rare complex syndromes such as Coffin-Siris syndrome.

MeSH terms

  • Abnormalities, Multiple
  • DNA-Binding Proteins / genetics
  • Face / abnormalities
  • Frameshift Mutation
  • Hand Deformities, Congenital* / genetics
  • Humans
  • Infant
  • Intellectual Disability* / genetics
  • Male
  • Micrognathism* / genetics
  • Mutation
  • Neck / abnormalities
  • Transcription Factors / genetics


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

Supplementary concepts

  • Coffin-Siris syndrome