A novel mutation in the GATAD2B gene associated with severe intellectual disability

Brain Dev. 2019 Mar;41(3):276-279. doi: 10.1016/j.braindev.2018.10.003. Epub 2018 Oct 25.

Abstract

Background: The human GATA zinc finger domain containing 2B (GATAD2B) encodes a subunit of the MeCP1-Mi-2/nucleosome remodeling and deacetylase complex, which is involved in chromatin modification and transcription. Recently, patients with severe intellectual disabilities and characteristic features associated with GATAD2B mutations have been identified.

Case report: The patient was a 4-year-old male with dysmorphic features, including frontal bossing, hypertelorism, epicanthal folds, down-slanting palpebral fissures, a flat nasal bridge, a high arched palate, and micrognathia. He spoke no meaningful words and exhibited severe intellectual disability. Hypermetropic astigmatism and mild spasticity of the lower extremities were noted. Whole-exome sequencing revealed a de novo missense mutation in GATAD2B (NM_020699:exon4:c.502C>T; p.(Glu168∗)).

Conclusion: We report a novel GATAD2B mutation in a boy exhibiting bilateral leg spasticity and white matter abnormalities on brain magnetic resonance imaging.

Keywords: GATAD2B; Haploinsufficiency; Hypotonia; Intellectual disability; Neuroradiological findings.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Child, Preschool
  • Developmental Disabilities / complications
  • Developmental Disabilities / diagnostic imaging
  • Developmental Disabilities / genetics*
  • GATA Transcription Factors / genetics*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / diagnostic imaging
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Muscle Spasticity / complications
  • Muscle Spasticity / genetics
  • Mutation / genetics*
  • Repressor Proteins

Substances

  • GATA Transcription Factors
  • GATAD2B protein, human
  • Repressor Proteins