Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR

Cytogenet Cell Genet. 2001;94(1-2):15-22. doi: 10.1159/000048775.


We recently studied a patient who meets criteria for autistic disorder and has a 2q37 deletion. Molecular cytogenetic studies were carried out using DNA isolated from 22 different 2q37 mapped BACs to more precisely define the extent of the chromosome deletion. We also analyzed 2q37 mapped polymorphic markers. In addition DNA sequences of BACs in the deletion region were scanned to identify microsatellite repeats. We describe four new polymorphic microsatellite repeat markers in the 2q37.3 region. These markers enabled us to determine the parental origin of the deletion in our patient. DNA from 8-13 unrelated individuals was used to determine heterozygosity estimates for these markers. We review four genes deleted in our patient - genes whose known functions and sites of expression in the brain and/or bone make them candidates for involvement in autism and/or the osteodystrophy observed in patients with 2q37.3 deletions.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Autistic Disorder / complications*
  • Autistic Disorder / genetics*
  • Autistic Disorder / physiopathology
  • Bone Diseases / complications*
  • Bone Diseases / genetics*
  • Bone and Bones / metabolism
  • Brain / metabolism
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Artificial, Bacterial
  • Chromosomes, Human, Pair 2 / genetics*
  • Contig Mapping
  • DNA Probes
  • Female
  • Gene Deletion
  • Genetic Markers / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Microsatellite Repeats / genetics
  • Polymorphism, Genetic / genetics
  • Psychometrics


  • DNA Probes
  • Genetic Markers