Normal phenotype in two brothers with a full FMR1 mutation

Human Molecular Genetics
H J SmeetsB A Oostra

Abstract

The fragile X syndrome is associated with an expanding CGG repeat in the 5' untranslated region of the first exon of the FMR1 gene. Subsequent methylation of the promoter region inhibits expression of the FMR1 gene. In two clinically normal brothers large, expanded CGG repeats and cytogenetically visible fragile sites were found. The FMR1 promoter was unmethylated and both RNA and protein could be detected. This indicates that inactivation of the FMR1 gene and not repeat expansion itself results in the fragile X phenotype. We conclude that repeat expansion does not necessarily induce methylation and that methylation is no absolute requirement for the induction of fragile sites.

Citations

Nov 1, 1995·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·B A Oostra, P J Willems
Jul 28, 2005·Journal of Genetic Counseling·Allyn McConkie-RosellBarbara J Pettersen
Nov 24, 2001·Brain Research Bulletin·P Chiurazzi, G Neri
Feb 16, 2002·Clinical Genetics·B A Oostra, P Chiurazzi
Jul 17, 2008·European Journal of Human Genetics : EJHG·Elisabetta TabolacciGiovanni Neri
Jun 15, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kristin G MonaghanUNKNOWN erican College of Medical Genetics and Genomics
Mar 3, 2005·European Journal of Human Genetics : EJHG·Elisabetta TabolacciGiovanni Neri
Feb 28, 1998·Human Molecular Genetics·P ChiurazziG Neri
Mar 25, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Liangjing ChenGary J Latham
Nov 15, 2006·Molecular and Cellular Biology·Steven J GrayEllen Fanning
Dec 4, 2012·The Journal of Clinical Investigation·Claudia BagniRandi Hagerman
Jul 23, 2013·PLoS Genetics·Stella LanniGiovanni Neri
Apr 8, 2004·Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology·Victoria BonillaElizabeth Pintado
May 13, 1997·Proceedings of the National Academy of Sciences of the United States of America·I J WeilerW T Greenough
May 9, 2014·Acta Neuropathologica·Elaine Y LiuEdward B Lee
Jan 1, 2014·Journal of Clinical Medicine·Tomer Halevy, Achia Urbach
Jun 22, 2002·Current Opinion in Genetics & Development·Barbara Bardoni, Jean-Louis Mandel
Dec 8, 2015·Molecular and Cellular Neurosciences·Anita Bhattacharyya, Xinyu Zhao
Dec 24, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·J R BrouwerB A Oostra
Jun 24, 2008·American Journal of Medical Genetics. Part a·Donald B BaileyDavid B Holiday
Jul 9, 2011·American Journal of Medical Genetics. Part a·Filomena PirozziGiovanni Neri
Oct 15, 2013·American Journal of Medical Genetics. Part a·Elisabetta Tabolacci, Pietro Chiurazzi
Jul 11, 2002·Obstetrics and Gynecology Clinics of North America·Katharine D Wenstrom
May 15, 2013·DNA Repair·Helen Budworth, Cynthia T McMurray
Jan 13, 2000·American Journal of Human Genetics·F TassoneP J Hagerman
Aug 27, 2015·European Journal of Human Genetics : EJHG·Martina GoracciElisabetta Tabolacci
Feb 24, 2009·Biochimica Et Biophysica Acta·Ben A Oostra, Rob Willemsen
May 11, 2013·The Journal of Molecular Diagnostics : JMD·Giuseppe LaFauciCarl Dobkin
May 13, 2014·Journal of Molecular Biology·Anja NaumannWalter Doerfler
Oct 16, 1999·American Journal of Human Genetics·R W BurmanB W Popovich
Jun 5, 2016·Cellular and Molecular Life Sciences : CMLS·Edyta JaworskaWlodzimierz J Krzyzosiak

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