Copy Number Variations - An Update

In 2007, Sabat and Wigler published a study of the prevalence of Copy Number Variations (CNV's) identified in volunteer families, including ubjects recruited from the IAN data base. They reported that 90% of cases were not inherited from their parents.

http://www.ncbi.nlm.nih.gov/pubmed/17363630?

CNV's and risk for disease has been the hot topic in genetic research and since the publication of the article CNV's have been found to occur more frequently than in healthy controls in many diseaes including mental retardation, schizophrenia and HIV infection susecptability.

Nothing has been proven with respect to what do CNV's do to 'cause' autism.

Since the report, a study has been published to look in depth at the behaviors and phenotypes of patients meeting diagnostic criteria for an ASD and the presence of CNV's:

http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16840569

Nine case were associated with CNV's. Seven were de novo CNV's (present in the patient but absent in the parents). In two cases the CNV was inherited from an unaffected parent.

The cases were included were patients with what the authors descibe as 'syndromic' ASD, which are patients who have, in addition to meeting diagnostic criteria for an ASD, minor and major congenital anomolies, including dysmorphic features.

The authors reported that in all cases, mental retardation was present (mild to moderate) and all had congenital anomlies.

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2563185&rendertype=table&id=T3

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2563185&rendertype=figure&id=F2

It would be an interesting study to examine the presence of de novo or inherted CNV's in non-syndromic ASD (ASD without mental retardation or dysmorphic features.