Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

Copy-number variations lead to extra or fewer copies of genetic material in the human genome. These changes are typically benign, but they may cause disease in some people. In this paper, we identify 35 individuals who have each lost genetic material in region 16q24.2 of chromosome 16. Many of these individuals have a cognitive disorder, such as autism spectrum disorder or intellectual disability. Three individuals also have congenital kidney disease. We suggest that deletions affecting four genes in 16q24.2 may lead to disease: FBXO31, MAP1LC3B, C16orf95, and ZCCHC14. These genes should be investigated further to understand their role in disease. (By Dr. Gregory R. Handrigan, http://jmg.bmj.com/content/early/2013/01/17/jmedgenet-2012-101288 )