Parental origin of de novo MECP2 mutations in Rett syndrome

European Journal of Human Genetics : EJHG
M GirardThierry Bienvenu

Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases. Recently, DNA mutations in the MECP2 gene have been detected in approximately 70% of patients with RTT. To explain the sex-limited expression of RTT, it has been suggested that de novo X-linked mutations occur exclusively in male germ cells resulting therefore only in affected daughters. To test this hypothesis, we have analysed 19 families with RTT syndrome due to MECP2 molecular defects. In seven informative families we have found by DHPLC a nucleotide variant which could be used to differentiate between the maternal and the paternal allele. In each subject investigated from these families, we have amplified specifically each allele and sequenced allele-specific PCR products to identify the allele bearing the mutation as well as the parental origin of each X chromosome. This approach allowed us to determine the parental origin of de novo mutations in all informative families. In five cases, the de novo MECP2 mutations have a paternal origin and in the two other cases a maternal origin. In all transitions at CpG, the de novo mutation observed was of paternal origin. The high frequency of male germ-line transmission o...Continue Reading

References

Dec 1, 1990·Human Genetics·P S MartinhoC H Gonzalez
Apr 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·D Y WuR B Wallace
Jan 1, 1986·American Journal of Medical Genetics. Supplement·D E Comings
Jan 1, 1986·American Journal of Medical Genetics. Supplement·M MurphyH W Moser
Dec 1, 1999·American Journal of Human Genetics·M WanU Francke
May 18, 2000·Human Molecular Genetics·T BienvenuJ Chelly
May 29, 2000·Current Opinion in Genetics & Development·I B Van den Veyver, H Y Zoghbi

❮ Previous
Next ❯

Citations

Feb 14, 2006·Journal of Molecular Evolution·Sofia BerlinHans Ellegren
Apr 29, 2010·Current Psychiatry Reports·Michael L Gonzales, Janine M LaSalle
Nov 16, 2002·Current Opinion in Genetics & Development·Wen Hsiung LiKateryna Makova
Sep 4, 2007·Expert Reviews in Molecular Medicine·Nuala H Sykes, Janine A Lamb
Jul 26, 2006·European Journal of Human Genetics : EJHG·Sarah L Williamson, John Christodoulou
Jul 11, 2006·European Journal of Human Genetics : EJHG·Gun Peggy S KnudsenKaren Helene Orstavik
Apr 19, 2002·Genetic Testing·J M MilunskyA Milunsky
Apr 12, 2002·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Alison Kerr
Jan 7, 2005·Journal of Medical Genetics·L S WeavingJ Christodoulou
Aug 30, 2011·BMC Medical Genetics·Kirti MittalThelma BK
Jan 18, 2011·Experimental Biology and Medicine·Gaston CalfaLucas Pozzo-Miller
Nov 22, 2013·Molecular Neurobiology·Hao DengZhi Song
Jun 12, 2009·Journal of Women's Health·Mary V Seeman
Sep 18, 2012·European Journal of Medical Genetics·Xiaoying ZhangXiru Wu
Jul 28, 2009·European Journal of Medical Genetics·Albertina De Sario
Sep 13, 2008·The International Journal of Biochemistry & Cell Biology·M R MatarazzoM D'Esposito
Jul 16, 2003·Clinical Genetics·J AusióP M Macleod
Dec 4, 2003·Journal of Intellectual Disability Research : JIDR·A M Kerr, D Ravine
Jul 23, 2003·Human Mutation·Gabriel Miltenberger-Miltenyi, Franco Laccone
Sep 13, 2006·Clinical Genetics·J C EvansA Clarke
Mar 21, 2016·Seminars in Cell & Developmental Biology·Marcella VaccaMaurizio D'Esposito
Jun 15, 2007·Child and Adolescent Psychiatric Clinics of North America·Bruria Ben Zeev Ghidoni
Nov 21, 2002·American Journal of Human Genetics·Mona D Shahbazian, Huda Y Zoghbi
Sep 16, 2011·The Biochemical Journal·Kamal K E GadallaStuart R Cobb
Apr 12, 2015·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Lucas Pozzo-MillerAlan K Percy
Feb 14, 2012·American Journal of Human Genetics·Anne Goriely, Andrew O M Wilkie
Mar 15, 2015·Frontiers in Cellular Neuroscience·Hansen WangLaurie C Doering
May 17, 2003·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Alessandra RenieriFranca Cambi
Dec 3, 2003·Journal of Child Neurology·John Christodoulou, Linda S Weaving
Oct 18, 2005·Journal of Child Neurology·Andrea L HamN Carolyn Schanen
Nov 5, 2003·American Journal of Medical Genetics. Part a·Marie GomotClaude Moraine
Apr 4, 2018·Orphanet Journal of Rare Diseases·Angus John Clarke, Ana Paula Abdala Sheikh
Sep 11, 2003·American Journal of Medical Genetics. Part a·E SmeetsJ P Fryns
May 19, 2006·Nature Reviews. Genetics·Thierry Bienvenu, Jamel Chelly

❮ 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.