Two cases of 16q12.1q21 deletions and refinement of the critical region

Eur J Med Genet. 2020 Jun;63(6):103878. doi: 10.1016/j.ejmg.2020.103878. Epub 2020 Feb 8.

Abstract

Interstitial deletions of 16q chromosome including 16q12.1q21 region are very rare, with only three cases reported to date. Main clinical features include dysmorphisms, short stature, microcephaly, eye abnormalities, epilepsy, development delay, intellectual disability, and autism spectrum disorder. We report two independent subjects with 16q12.1q21 deletion syndrome presenting with dysmorphic facial features, developmental delay, strabismus, and aggressive behavior. A minimal region of overlap spanning 1.7 Mb on chromosome 16, including IRX5, GNAO1, and NUDT21 genes was shared among these two cases and those previously reported. This minimal region of overlap suggests the potential pathogenic role of these genes, previously implicated in diseases of the central nervous system.

Keywords: 16q interstitial deletion; 16q12.1q21; GNAO1; Metallothionein.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology
  • Chromosomes, Human, Pair 16 / genetics*
  • Cleavage And Polyadenylation Specificity Factor / genetics
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • GTP-Binding Protein alpha Subunits, Gi-Go / genetics
  • Homeodomain Proteins / genetics
  • Humans
  • Male
  • Syndrome
  • Transcription Factors / genetics

Substances

  • Cleavage And Polyadenylation Specificity Factor
  • GNAO1 protein, human
  • Homeodomain Proteins
  • IRX5 protein, human
  • Nudt21 protein, human
  • Transcription Factors
  • GTP-Binding Protein alpha Subunits, Gi-Go