Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

European Journal of Human Genetics : EJHG
J C EvansR Butler

Abstract

Mutations in MECP2 are a cause of Rett syndrome. Recently, a new isoform of MeCP2 was described, which has an alternative N-terminus, transcribed from exon 1. We screened exon 1 and the promoter region of MECP2 in 97 mutation-negative Rett syndrome cases. We found two sequence variants, but there was no evidence that they are pathogenic. Mutations in exon 1 and the promoter of MECP2 are not a common cause of Rett syndrome.

References

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Citations

Feb 14, 2006·European Journal of Medical Genetics·C PhilippeT Bienvenu
Jul 15, 2005·European Journal of Human Genetics : EJHG·Julie C EvansAngus J Clarke
Jul 26, 2006·European Journal of Human Genetics : EJHG·Sarah L Williamson, John Christodoulou
Sep 16, 2008·Brain : a Journal of Neurology·Nadia Bahi-BuissonThierry Bienvenu
Jul 25, 2006·BMC Medical Genetics·Ivan J DelgadoIgnatia B Van den Veyver
Mar 26, 2014·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Jianling ChenXiaohong Li
Mar 13, 2014·Neuromolecular Medicine·Vichithra R B Liyanage, Mojgan Rastegar
Mar 27, 2007·European Journal of Medical Genetics·Gaëtan LescaAlain Calender
Apr 15, 2009·American Journal of Medical Genetics. Part a·Carol J SaundersJohn B Vincent
Feb 28, 2006·American Journal of Medical Genetics. Part a·Hayley L ArcherAngus J Clarke
May 21, 2009·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Nadia Bahi-BuissonThierry Bienvenu
Apr 18, 2006·The Journal of Pediatrics·Crystal L LaurvickHelen Leonard
Jul 11, 2006·European Journal of Medical Genetics·Aline QuenardChristophe Philippe
Oct 18, 2005·Journal of Child Neurology·Peter Huppke, Jutta Gärtner
Oct 18, 2005·Journal of Child Neurology·Andrea L HamN Carolyn Schanen
Nov 8, 2006·Journal of Human Genetics·Mei-Rong LiXi-Ru Wu
Dec 16, 2006·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Chris G HarveyJohn B Vincent
Oct 31, 2007·American Journal of Medical Genetics. Part a·Elisa ScalaFrancesca Ariani
Mar 17, 2005·European Journal of Human Genetics : EJHG·Karine PoirierThierry Bienvenu
Mar 26, 2005·Current Opinion in Neurology·Masaya Segawa, Yoshiko Nomura

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