title: Adult expression of a 3q13.31 microdeletion.
abstract: BACKGROUND
  The emerging 3q13.31 microdeletion syndrome appears to encompass diverse neurodevelopmental conditions. However, the 3q13.31 deletion is rare and few adult cases have yet been reported. We examined a cohort with schizophrenia (n = 459) and adult control subjects (n = 26,826) using high-resolution microarray technology for deletions and duplications at the 3q13.31 locus.
  
  
  RESULTS
  We report on the extended adult phenotype associated with a 3q13.31 microdeletion in a 41-year-old male proband with schizophrenia and a nonverbal learning disability. He was noted to have a speech impairment, delayed motor skills, and other features consistent with the 3q13.31 microdeletion syndrome. The 2.06 Mb deletion overlapped two microRNAs and seven RefSeq genes, including GAP43, LSAMP, DRD3, and ZBTB20. No overlapping 3q13.31 deletions or duplications were identified in control subjects.
  
  
  CONCLUSIONS
  Later-onset conditions like schizophrenia are increasingly associated with rare copy number variations and associated genomic disorders like the 3q13.31 microdeletion syndrome. Detailed phenotype information across the lifespan facilitates genotype-phenotype correlations, accurate genetic counselling, and anticipatory care.
authors.forename: Chelsea
authors.initials: C
authors.lastname: Lowther
authors.forename: Gregory
authors.initials: G
authors.lastname: Costain
authors.forename: Rebecca
authors.initials: R
authors.lastname: Melvin
authors.forename: Dimitri J
authors.initials: DJ
authors.lastname: Stavropoulos
authors.forename: Anath C
authors.initials: AC
authors.lastname: Lionel
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada. anne.bassett@utoronto.ca.
authors.forename: Anne S
authors.initials: AS
authors.lastname: Bassett