Genetics Information
For a download of a leaflet on
questions parents ask about Rett syndrome and genetics, please click on the
link below.
Although great care has been
taken in the compilation and preparation of this work to ensure accuracy,
Rett Syndrome Association UK cannot accept responsibility for any errors or
omissions. Any medical information is provided for education /
information purposes - you should obtain further information from you
medical practitioner.
Guidelines for reporting clinical features in cases with MECP2 mutations
Reprinted from BRAIN & DEVELOPMENT, Vol 23 (Vol 4),
Guidelines for reporting clinical features in cases with MECP2 mutations by
Alison M Kerr, Yoshiko Nomura, Dawna Armstrong, Maria Anvret, Pavel V.
Belichenko, Sarojini Budden, Hilary Cass, John Christodoulou, Angus Clarke,
Carolyn Ellaway, Maurizio d`Esposito, Uta Francke, Maj Hulten, Peter Julu,
Helen Leonard, Sakkubai Naidu, Carolyn Schanen, Tessa Webb, Ingegerd Witt
Engerstrom, Yushiro Yamashita and Masaya Segawa, pp. 208-211 © 2001, with
permission from Elsevier:
http://www.sciencedirect.com/science/journal/03877604 Approximate
download times at 28k: 5 seconds
MECP2 Mutations in Sporadic Cases of
Rett Syndrome are almost exclusively of Paternal Origin
Reprinted from the AMERICAN JOURNAL OF HUMAN GENETICS Vol 68: `MECP2
Mutations in Sporadic Cases of Rett Syndrome are almost exclusively of
Paternal Origin` by R Trappe, F Laccone, J Cobilanschi, M Meins, P Huppke, F
Hanefeld and W Engel, pp 1093-1101 (c) 2001 by The American Society of Human
Genetics with permission from The University of Chicago Press
Approximate download time at 28k: 8 seconds.
Rett
Syndrome Is Caused By Mutations In X-Linked MECP2, Encoding Methyl-CpG-Binding
Protein 2 Reprinted from NATURE GENETICS, Vol
23, `Rett syndrome is caused by mutations in X-linked MECP2, encoding
methyl-CpG-binding protein 2` by Ruthie E Amir, Ignatia B Van den Veyver,
Mimi Wan, Charles Q Tran, Uta Francke and Huda Y Zoghbi, pp 185-188 © 1999
with permission from Nature Publishing Group. The original definitive
article is on the Nature Publishing Group website: http://www.nature.com.
This paper can only be downloaded for personal study use and cannot be
copied for commercial purposes with the permission of the publisher.
Approximate download time at 28k: 14 seconds.
Review article: Breaking new
ground with Rett syndrome Reprinted from the JOURNAL
OF INTELLECTUAL DISABILITY RESEARCH, Vol 47, Part 8, `Review Article:
Breaking new ground with Rett syndrome` by A M Kerr and D Ravine, pp 580-587
© 2003 with permission from Blackwell Publishing:
http://www.blackwellpublishing.com/jnl_default.asp Approximate
download time at 28k: 8 seconds.
Please click on the link below for
further helpful information on genetics.
Genetic Interest Group (GIG)
Long-read
Sequence Analysis Of The MECP2 Gene In Rett Syndrome Patients: Correlation
Of Disease Severity With Mutation Type And Location
Psychosocial aspects of
genetic screening of pregnant women and newborns: a systematic review
Rett Syndrome and MECP2 in Boys
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