How to Cite this Article: Speevak MD, Farrell SA. 2011. Non-Syndromic Language Delay in a Child With Disruption in the Protocadherin11X/Y Gene Pair. Am J Med Genet Part B 156:484–489.
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair†
Article first published online: 7 APR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 156, Issue 4, pages 484–489, June 2011
How to Cite
Speevak, M. D. and Farrell, S. A. (2011), Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair. Am. J. Med. Genet., 156: 484–489. doi: 10.1002/ajmg.b.31186
- Issue published online: 25 APR 2011
- Article first published online: 7 APR 2011
- Manuscript Accepted: 3 MAR 2011
- Manuscript Received: 10 NOV 2010
- oligonucleotide array;
- fluorescence in situ hybridization;
Protocadherin11 is located on both the X and Y chromosomes in Homo sapiens but only on the X chromosome in other hominid species. The pairing of PCDH11Y with PCDH11X arose following a duplicative 3.5 Mb translocation from the ancestral X chromosome to the Y chromosome several million years ago. The genes are highly expressed in fetal brain and spinal cord. The evolutionary consequence of this duplication has been proposed to include the sexual dimorphism of cerebral asymmetry and the hominid specific transition to the capacity for language. We report a case of a male child referred for genetic investigation of severe language delay. Microarray analysis indicated the presence of a 220 Kb intragenic deletion at Xq21.31 involving the PCDH11X gene. Fluorescence in situ hybridization using a BAC probe mapping to intron 2 of the Protocadherin11X/Y gene pair confirmed loss of the locus on both the X and Y chromosomes. The X chromosome deletion was maternally inherited, but the Y chromosome deletion was found to be a de novo occurrence in this child. This finding lends support to the hypothesis that the Protocadherin11X/Y gene plays a role in language development in humans and that rare copy number variation is a possible mechanism for communication disorders. © 2011 Wiley-Liss, Inc.