MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype

Eur J Med Genet. 2020 Jan;63(1):103627. doi: 10.1016/j.ejmg.2019.01.017. Epub 2019 Feb 5.

Abstract

Myeloid ecotropic insertion site 2 (MEIS2) gene, encoding a homeodomain-containing transcription factor, has been recently related to syndromic intellectual disability with cleft palate and cardiac defects. Here, we present a male patient, aged 10, with cardiac defects, intellectual disability, facial dysmorphisms and gastroesophageal reflux. Whole exome sequencing revealed a novel de novo nonsense mutation in the MEIS2 gene. This patient represents another reported case with a de novo MEIS2 point mutation and helps to characterize a distinct facial phenotype consisting in low anterior hairline, thin eyebrows, anteverted nares, hypoplastic alae nasi, and M-shape upper lip. Furthermore, these data confirm the role of this gene in cardiac, nervous system development and gastrointestinal function.

Keywords: Exome analysis; Intellectual disability; MEIS2; Ventricular septal defect.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology
  • Exome / genetics
  • Exome Sequencing
  • Face / pathology
  • Heart Diseases / genetics*
  • Heart Diseases / pathology
  • Heart Septal Defects, Ventricular / genetics*
  • Heart Septal Defects, Ventricular / pathology
  • Homeodomain Proteins / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Mutagenesis, Insertional / genetics
  • Mutation / genetics
  • Phenotype
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • MEIS2 protein, human
  • Transcription Factors