MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

European Journal of Human Genetics : EJHG
J B NielsenN Tommerup

Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder, which almost exclusively affects girls, who, after an initial period of apparently normal development, display gradual loss of speech and purposeful hand use, gait abnormalities and stereotypical hand movements. In the year 2000, mutations in the gene for the methyl CpG binding protein 2, MECP2, have been identified in 35-80% of the patients in three different studies. We have identified 15 different MECP2 mutations in 26 of 30 Danish RTT patients. The mutations included five novel mutations (one point mutation, three smaller deletions involving identical regions in the gene, and one duplication). In contrast to the point mutations and the duplication, which all affect the methyl binding domain or the transcriptional repressing domain, the three overlapping deletions are clustered in the 3' end of the gene. We found no consistent correlation between the type of mutation and the clinical presentation of the patient or the X-inactivation pattern in peripheral blood. Our high mutation detection rate, compared to two of the previous studies, underscores the importance of the inclusion criteria of the patients and supports that MECP2 is the most important, if not the only, gene r...Continue Reading

References

Jul 1, 1994·Pediatric Neurology·B A Hagberg, O H Skjeldal
Jul 1, 1996·Mammalian Genome : Official Journal of the International Mammalian Genome Society·M D'EspositoS D Brown
Oct 27, 1997·American Journal of Human Genetics·N C SchanenU Francke
May 23, 1998·Journal of Medical Genetics·F XiangM Anvret
Jul 31, 1998·American Journal of Human Genetics·M KrawczakD N Cooper
Mar 27, 1999·European Journal of Human Genetics : EJHG·A SilahtarogluN Tommerup
Dec 1, 1999·American Journal of Human Genetics·M WanU Francke
Mar 21, 2000·Mammalian Genome : Official Journal of the International Mammalian Genome Society·K ReichwaldP Kioschis
Apr 4, 2000·Journal of Medical Genetics·F XiangM Anvret
May 18, 2000·Human Molecular Genetics·P HuppkeF Hanefeld
May 18, 2000·Human Molecular Genetics·T BienvenuJ Chelly

❮ Previous
Next ❯

Citations

Jul 12, 2002·Mental Retardation and Developmental Disabilities Research Reviews·Alan K Percy
Jul 12, 2002·Mental Retardation and Developmental Disabilities Research Reviews·K C HoffbuhrE P Hoffman
Nov 24, 2004·European Journal of Pediatrics·Konrad OexleSigrid Tinschert
Nov 8, 2008·Human Genetics·Abidemi A AdegbolaGerald F Cox
Jan 5, 2002·Annales de génétique·V BourdonP Jonveaux
Mar 6, 2003·Neurologic Clinics·Alan K Percy
Jul 11, 2006·European Journal of Human Genetics : EJHG·Gun Peggy S KnudsenKaren Helene Orstavik
Apr 19, 2002·Genetic Testing·J M MilunskyA Milunsky
Aug 21, 2003·Human Molecular Genetics·Skirmantas Kriaucionis, Adrian Bird
Nov 29, 2002·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Rebecca H MountHilary Cass
May 13, 2006·Journal of Medical Genetics·P HuppkeJ Gärtner
Dec 24, 2010·Pediatric Research·Gitte RoendeJytte Bieber Nielsen
Apr 9, 2005·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·Susan L Santangelo, Katherine Tsatsanis
Sep 25, 2004·American Journal of Medical Genetics. Part a·Judit KártesziGyörgy Kosztolányi
Jan 27, 2012·Brain & Development·Val ZvereffKenneth J Friedman
Jul 23, 2003·Human Mutation·Gabriel Miltenberger-Miltenyi, Franco Laccone
Mar 21, 2016·Seminars in Cell & Developmental Biology·Marcella VaccaMaurizio D'Esposito
May 19, 2011·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Gitte RoendeJens-Erik Beck Jensen
Nov 21, 2002·American Journal of Human Genetics·Mona D Shahbazian, Huda Y Zoghbi
May 22, 2016·Disability and Rehabilitation·Bitten Schönewolf-GreulichAnne-Marie Bisgaard
May 17, 2003·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Alessandra RenieriFranca Cambi
Apr 9, 2004·The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry·Jeffrey L Neul, Huda Y Zoghbi
Dec 3, 2003·Journal of Child Neurology·John Christodoulou, Linda S Weaving
Dec 3, 2003·Journal of Child Neurology·Susan FyfeHelen Leonard
Jan 5, 2008·Journal of Child Neurology·Alan K PercyPatrick MacLeod
Oct 18, 2005·Journal of Child Neurology·Andrea L HamN Carolyn Schanen
Dec 18, 2001·American Journal of Medical Genetics·M ZappellaA Renieri
Sep 5, 2002·American Journal of Medical Genetics·Mona D ShahbazianHuda Y Zoghbi
Sep 5, 2002·American Journal of Medical Genetics·Heidi A HeilstedtBrendan Lee
Apr 23, 2003·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Michele ZappellaAlessandra Renieri
Mar 26, 2003·American Journal of Medical Genetics. Part a·Linda S WeavingJohn Christodoulou
Nov 13, 2018·Clinical Genetics·Bitten Schönewolf-GreulichZeynep Tümer
May 10, 2007·Food Additives and Contaminants·C UneyamaK Morikawa
Jan 30, 2003·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Fe Lobo-MenendezRon C Michaelis

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