PMID: 11309367Apr 20, 2001Paper

MECP2 is highly mutated in X-linked mental retardation

Human Molecular Genetics
Philippe CouvertB Cherif

Abstract

Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of phenotypes, including mental handicap, has been shown to be associated with mutations in MECP2. These findings, with the compelling genetic evidence suggesting the presence in Xq28 of additional genes besides RabGDI1 and FMR2 involved in non-specific X-linked mental retardation (MRX), prompted us to investigate MECP2 in MRX families. Two novel mutations, not found in RTT, were identified. The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28. In view of these data, we screened MECP2 in a cohort of 185 patients found negative for the expansions across the FRAXA CGG repeat and reported the identification of mutations in four sporadic cases of MR. One of the mutations, A140V, which we found in two patients, has been described previously, whereas the two others, P399L and R453Q, are novel mutations. In addition to the results demonstrating the involvement of MECP2 in MRX, this study shows that the frequency of mutations in MECP2 in the mentally retarded population sc...Continue Reading

Citations

Jan 25, 2002·American Journal of Medical Genetics·Helger G YntemaClaude Moraine
Jul 12, 2002·Mental Retardation and Developmental Disabilities Research Reviews·Alan K Percy
Jul 12, 2002·Mental Retardation and Developmental Disabilities Research Reviews·Sara HammerCarolyn Schanen
Jul 12, 2002·Mental Retardation and Developmental Disabilities Research Reviews·K C HoffbuhrE P Hoffman
Sep 7, 2002·Mental Retardation and Developmental Disabilities Research Reviews·Helen Leonard, Xingyan Wen
Nov 8, 2008·Human Genetics·Abidemi A AdegbolaGerald F Cox
Apr 29, 2010·Current Psychiatry Reports·Michael L Gonzales, Janine M LaSalle
Jun 13, 2003·Trends in Genetics : TIG·Hans-Hilger RopersClaude Moraine
Mar 6, 2003·Neurologic Clinics·Alan K Percy
Sep 6, 2002·Pediatric Neurology·Patricia M VillemagneDean F Wong
Sep 19, 2003·Pediatric Neurology·Magdalena Chechlacz, Joseph G Gleeson
Jun 22, 2002·Current Opinion in Genetics & Development·Barbara Bardoni, Jean-Louis Mandel
Mar 5, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Ute MoogConnie T R M Schrander-Stumpel
Mar 17, 2005·European Journal of Human Genetics : EJHG·Karine PoirierThierry Bienvenu
Jul 26, 2006·European Journal of Human Genetics : EJHG·Sarah L Williamson, John Christodoulou
May 25, 2006·European Journal of Human Genetics : EJHG·Jamel ChellyThierry Bienvenu
Aug 16, 2002·Genetic Testing·Thierry BienvenuUNKNOWN French Consortium for MECP2 Gene Analysis
Mar 25, 2009·Genetic Testing and Molecular Biomarkers·Ibrahim Baris, Esra Battaloglu
Aug 21, 2003·Human Molecular Genetics·Skirmantas Kriaucionis, Adrian Bird
Dec 20, 2007·Journal of Developmental and Behavioral Pediatrics : JDBP·Elena L Grigorenko
Apr 7, 2007·Psychiatric Genetics·Chun-Yan XiYao-Hua Ji
Nov 21, 2012·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Neil A Youngson, Margaret J Morris
Mar 14, 2007·Journal of Medical Genetics·Laurent Villard
Feb 28, 2002·Journal of Neurology, Neurosurgery, and Psychiatry·P Nokelainen, J Flint
Feb 18, 2011·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Nicholas L Adkins, Philippe T Georgel
Jun 11, 2002·Annual Review of Nutrition·Ignatia B Van den Veyver
Dec 27, 2007·PloS One·Julie MiralvèsEtienne Joly
Mar 17, 2004·Genetics·Jennifer K Inlow, Linda L Restifo
Oct 8, 2003·Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology·Violaine BourdonPhilippe Jonveaux
Oct 28, 2005·Proceedings of the National Academy of Sciences of the United States of America·Juan I YoungHuda Y Zoghbi
Nov 17, 2006·Proceedings of the National Academy of Sciences of the United States of America·Bryan E McGillHuda Y Zoghbi
Jan 15, 2014·Neuropharmacology·Megumi Adachi, Lisa M Monteggia
Aug 27, 2002·Proceedings of the National Academy of Sciences of the United States of America·Volker EndrisGudrun A Rappold

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.