A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings

Eur J Med Genet. Sep-Oct 2010;53(5):329-32. doi: 10.1016/j.ejmg.2010.06.004. Epub 2010 Jun 9.

Abstract

We report a 5-year-old boy with mental retardation, autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings, carrying a 7.9 Mb de novo deletion of chromosome 22q13.2→qter. This region contains the SHANK3, NCAPH2 and CYP2D6 genes which are associated with T-cell immune response. The present case provides evidence that 22q13 deletion syndrome may be associated with immune system dysfunction in addition to neuropsychiatric disorders.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Autistic Disorder / genetics
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Cell Cycle Proteins / genetics
  • Cell Cycle Proteins / metabolism
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Comparative Genomic Hybridization
  • Cytochrome P-450 CYP2D6 / genetics
  • Cytochrome P-450 CYP2D6 / metabolism
  • Dermatitis, Atopic / genetics
  • Developmental Disabilities / genetics*
  • Epilepsy / genetics
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Intellectual Disability / genetics
  • Male
  • Nerve Tissue Proteins
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Syndrome

Substances

  • Carrier Proteins
  • Cell Cycle Proteins
  • NCAPH protein, human
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • SHANK3 protein, human
  • Cytochrome P-450 CYP2D6