Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder

Mol Hum Reprod. 2007 Sep;13(9):685-9. doi: 10.1093/molehr/gam045. Epub 2007 Jul 20.


Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. We have previously noted that some cases of 46,XY gonadal dysgenesis carry a 9p deletion and exhibit behavioural problems consistent with autistic spectrum disorder. These cases had a small terminal deletion of 9p with limited or no somatic anomalies that are characteristic of the monosomy 9p syndrome. Here, we present a new case of 46,XY partial gonadal dysgenesis and autistic spectrum disorder associated with a de novo deletion of 9p24 that was detected by ultra-high resolution oligo microarray comparative genomic hybridization. The deletion included the candidate sex-determining genes in the region DMRT1 and DMRT3. These data suggest that a gene responsible for autistic spectrum disorder is located within 9p24. It remains to be determined if the gonadal dysgenesis and autistic spectrum disorder are caused by a single gene or if they are caused by distinct genetic entities at 9p24.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Autistic Disorder / genetics*
  • Autistic Disorder / pathology
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 9 / genetics*
  • Cytoskeletal Proteins
  • DNA-Binding Proteins / genetics
  • Female
  • Genome, Human
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Gonadal Dysgenesis, 46,XY / pathology
  • Guanine Nucleotide Exchange Factors / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Jumonji Domain-Containing Histone Demethylases
  • Male
  • Neoplasm Proteins / genetics
  • Nucleic Acid Hybridization / methods
  • Transcription Factors / genetics
  • Tumor Suppressor Proteins / genetics


  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • DMRT1 protein
  • DMRT2 protein, human
  • DNA-Binding Proteins
  • DOCK8 protein, human
  • Guanine Nucleotide Exchange Factors
  • KANK1 protein, human
  • KDM4C protein, human
  • Neoplasm Proteins
  • Transcription Factors
  • Tumor Suppressor Proteins
  • Jumonji Domain-Containing Histone Demethylases