The ARX mutations: a frequent cause of X-linked mental retardation

American Journal of Medical Genetics. Part a
M NawaraT Mazurczak

Abstract

The ARX gene mutations have been demonstrated to cause different forms of mental retardation (MR). Beside FMR1, in families with X-linked mental retardation (XLMR), the ARX dysfunction was demonstrated to be among the most frequent causes of this heterogeneous group of disorders. Nevertheless, in sporadic cases of MR, ARX mutations are extremely rare. In order to evaluate the frequency of ARX mutation in XLMR, we performed mutational analysis of ARX in 165 mentally retarded probands negative for FRAXA and belonging to families in which the condition segregates as an X-linked condition. The same recurrent mutation, an in frame 24 bp insertion (c.428-451 dup (24 bp)), was identified in five patients. In one family, the mother of two affected boys was found not to carry the mutation detected in her sons. These data suggest the presence of germline mosaicism for the mutation in the mother. Our results confirm the significant contribution of ARX mutations in the etiology of MR, especially in this group of patients selected for XLMR (3%). These data, together with those reported in the literature, imply that screening for c.428-451 dup (24 bp) mutation should be recommended in all patients with suspected XLMR.

References

Sep 5, 2001·Nature Reviews. Genetics·J Chelly, J L Mandel
Sep 7, 2002·Mental Retardation and Developmental Disabilities Research Reviews·Helen Leonard, Xingyan Wen
Dec 31, 2003·Trends in Genetics : TIG·Lucia Y Brown, Stephen A Brown
Jun 17, 2004·European Journal of Human Genetics : EJHG·Karen GrønskovKaren Brøndum-Nielsen
Jul 24, 2004·Critical Reviews in Clinical Laboratory Sciences·Pietro ChiurazziGiovanni Neri
Aug 21, 2004·European Journal of Human Genetics : EJHG·Jean-Louis Mandel, Jamel Chelly
Sep 11, 2004·Human Molecular Genetics·Jeanne AmielStanislas Lyonnet
Jan 5, 2005·Nature Reviews. Genetics·H-Hilger Ropers, Ben C J Hamel

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Citations

Apr 12, 2012·European Journal of Human Genetics : EJHG·Cheryl ShoubridgeJozef Gecz
May 8, 2007·BMC Medical Genetics·Carmela LaperutaMaria Giuseppina Miano
Oct 17, 2008·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Gaia ColasanteVania Broccoli
Feb 22, 2011·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Tiziana BachettiIsabella Ceccherini
Jun 6, 2009·The Journal of Biological Chemistry·Wenbo LinTao Tao
Oct 18, 2006·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Pauline ChasteCatalina Betancur
May 2, 2006·Current Opinion in Genetics & Development·Hans-Hilger Ropers
Mar 27, 2007·European Journal of Medical Genetics·Gaëtan LescaAlain Calender
Dec 17, 2009·Developmental Disabilities Research Reviews·Roger E Stevenson, Charles E Schwartz
May 28, 2010·Human Mutation·Cheryl ShoubridgeJozef Gécz
Aug 28, 2012·Journal of Developmental and Behavioral Pediatrics : JDBP·Ghassan Abu KuwaikGrace Yoon
Jul 18, 2006·Journal of Human Genetics·Raquel de Souza Gestinari-DuarteMárcia Mattos Gonçalves Pimentel
Sep 9, 2015·Epilepsia·Margie A Ream, Anup D Patel
Jan 5, 2011·American Journal of Medical Genetics. Part a·Mireille CosséeJean-Louis Mandel

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