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

Gregory Ryan Handrigan, David A. Chitayat, Anath C Lionel, Maury Pinsk, Andrea K. Vaags, Christian R Marshall, Sarah Dyack, Luis F. Escobar, Bridget A. Fernandez, Joseph C. Stegman, Jill A. Rosenfeld, Lisa G. Shaffer, McKinsey Goodenberger, Jennelle C. Hodge, Jason E. Cain, Riyana Babul-Hirji, Dimitri J. Stavropoulos, Verna Yiu, Stephen W. Scherer, Norman D Rosenblum

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Background The contribution of copy-number variation (CNV) to disease has been highlighted with the widespread adoption of array-based comparative genomic hybridisation (aCGH) and microarray technology. Contiguous gene deletions involving ANKRD11 in 16q24.3 are associated with autism spectrum disorder (ASD) and intellectual disability (ID), while 16q24.1 deletions affecting FOXF1 are associated with congenital renal malformations, alveolar capillary dysplasia, and various other abnormalities. The disease associations of deletions in the intervening region, 16q24.2, have only been defined to a limited extent. Aim To determine whether deletions affecting 16q24.2 are correlated with congenital anomalies. Methods 35 individuals, each having a deletion in 16q24.2, were characterised clinically and by aCGH and/ or SNP-genotyping microarray. Results Several of the 35 16q24.2 deletions identified here closely abut or overlap the coding regions of FOXF1 and ANKRD11, two genes that have been previously associated with the disease. 25 patients were reported to have ASD/ID, and three were found to have bilateral hydronephrosis. 14 of the deletions associated with ASD/ ID overlap the coding regions of FBXO31 and MAP1LC3B. These same genes and two others, C16orf95 and ZCCHC14, are also included in the area of minimal overlap of the three deletions associated with hydronephrosis. Conclusions Our data highlight 16q24.2 as a region of interest for ASD, ID and congenital renal malformations. These conditions are associated, albeit without complete penetrance, with deletions affecting C16orf95, ZCCHC14, MAP1LC3B and FBXO31. The function of each gene in development and disease warrants further investigation.

Original languageEnglish
Pages (from-to)163-173
Number of pages11
JournalJournal of Medical Genetics
Issue number3
Publication statusPublished - 2013
Externally publishedYes

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Handrigan, G. R., Chitayat, D. A., Lionel, A. C., Pinsk, M., Vaags, A. K., Marshall, C. R., Dyack, S., Escobar, L. F., Fernandez, B. A., Stegman, J. C., Rosenfeld, J. A., Shaffer, L. G., Goodenberger, M., Hodge, J. C., Cain, J. E., Babul-Hirji, R., Stavropoulos, D. J., Yiu, V., Scherer, S. W., & Rosenblum, N. D. (2013). Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. Journal of Medical Genetics, 50(3), 163-173.