HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) All Versions of this Article: jmg.2005.033043v1 43/3/193    most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Raymond, F L Search for Related Content PubMed PubMed Citation Articles by Raymond, F L

X linked mental retardation: a clinical guide

Correspondence to:
F Lucy Raymond
Cambridge Institute of Medical Research, Department of Medical Genetics, University of Cambridge, Addenbrooke’s Hospital, Cambridge, CB2 2XY, UK; flr24{at}cam.ac.uk] Mental retardation is more common in males than females in the population, assumed to be due to mutations on the X chromosome. The prevalence of the 24 genes identified to date is low and less common than expansions in FMR1, which cause Fragile X syndrome. Systematic screening of all other X linked genes in X linked families with mental retardation is currently not feasible in a clinical setting. The phenotypes of genes causing syndromic and non-syndromic mental retardation (NLGN3, NLGN4, RPS6KA3(RSK2), OPHN1, ATRX, SLC6A8, ARX, SYN1, AGTR2, MECP2, PQBP1, SMCX, and SLC16A2) are first discussed, as these may be the focus of more targeted mutation analysis. Secondly, the relative prevalence of genes causing only non-syndromic mental retardation (IL1RAPL1, TM4SF2, ZNF41, FTSJ1, DLG3, FACL4, PAK3, ARHGEF6, FMR2, and GDI) is summarised. Thirdly, the problem of recurrence risk where a molecular genetics diagnosis has not been made and what proportion of the male excess of mental retardation is due to monogenic disorders of the X chromosome are discussed.

Keywords: mental retardation; recurrence risks; X chromosome; X linked; X linked mental retardation; XLMR

This article has been cited by other articles:

				W. Reardon and D. Donnai Dysmorphology demystified Arch. Dis. Child. Fetal Neonatal Ed., May 1, 2007; 92(3): F225 - F229. [Full Text] [PDF]

				H L Archer, J Evans, S Edwards, J Colley, R Newbury-Ecob, F O'Callaghan, M Huyton, M O'Regan, J Tolmie, J Sampson, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients J. Med. Genet., September 1, 2006; 43(9): 729 - 734. [Abstract] [Full Text] [PDF]