Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7525
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Type: Journal article
Title: Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males
Author: Cantagrel, V.
Lossi, A.
Boulanger, S.
Depetris, D.
Mattei, M.
Gecz, J.
Schwartz, C.
van Maldergem, L.
Villard, L.
Citation: Journal of Medical Genetics, 2004; 41(10):736-742
Publisher: British Med Journal Publ Group
Issue Date: 2004
ISSN: 0022-2593
1468-6244
Statement of
Responsibility: 
V Cantagrel, A-M Lossi, S Boulanger, D Depetris, M-G Mattei, J Gecz, C E Schwartz, L Van Maldergem, L Villard
Abstract: Methods: We have identified a pericentric inversion of the X chromosome inv(X)(p22.3;q13.2) segregating in a family where two male carriers have severe MR while female carriers are not affected. Results: The molecular characterisation of this inversion led us to identify two new genes which are disrupted by the breakpoints: KIAA2022 in Xq13.2 and P2RY8 in Xp22.3. These genes were not previously fully characterised in humans. KIAA2022 encodes a protein which lacks significant homology to any other known protein and is highly expressed in the brain. P2RY8 is a member of the purine nucleotide G-protein coupled receptor gene family. It is located in the pseudo-autosomal region of the X chromosome and is not expressed in brain. Conclusions: Because the haploinsufficiency of P2RY8 in carrier mothers does not have a phenotypic consequence, we propose that the severe MR of the affected males in this family is due to the absence of the KIAA2022 gene product. However, screening 20 probands from X linked MR families did not reveal mutations in KIAA2022. Nonetheless, the high expression of this gene in fetal brain and in the adult cerebral cortex could be consistent with a role in brain development and/or cognitive function. Abbreviations: AR, androgen receptor; BrdU, 5-bromodeoxyuridine; FISH, fluorescent in situ hybridisation; MR, mental retardation; NS MR, non-syndromic mental retardation; NS XLMR, non-syndromic X linked mental retardation; PAR1, pseudoautosomal region 1
Keywords: chromosomal rearrangement, KIAA2022, P2RY8, X chromosome, X linked mental retardation
Description: Copyright © 2004 by the BMJ Publishing Group Ltd.
RMID: 0020040986
DOI: 10.1136/jmg.2004.021626
Published version: http://jmg.bmj.com/cgi/content/abstract/41/10/736
Appears in Collections:Paediatrics publications

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