#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutationsin MeCP2 Gene


Authors: R. Rosipal;  J. Zeman;  J. Hadač;  N. Mišovicová;  S. Nevšímalová;  P. Martásek
Authors‘ workplace: Klinika dětského a dorostového lékařství a Centrum integrovane genomiky 1. LF UK, Praha Oddělení dětské neurologie FTN, Praha Oddelenie lekárskej genetiky MFN, Martin Neurologická klinika 1. LF UK a VFN, Praha
Published in: Čas. Lék. čes. 2001; : 473-476
Category:

Overview

Background.
Rett syndrome is an X-linked dominant neurodevelopmental disorder affecting 1 from 10,000 to15,000 females worldwide. The responsible gene, encoding methyl-CpG binding protein 2 was recently identified.Methyl-CpG binding protein 2 is thought to act as a global transcriptional repressor. In the methyl-CpG bindingprotein 2 gene are known 5 prevalent mutations that cause Rett syndrome. Four of them are detectable by restrictionanalysis. In this study we present the results of the molecular study of four prevalent mutations in the gene formethyl-CpG binding protein 2 in Czech and Slovak patients with Rett syndrome.Methods and Results. 22 females with Rett syndrome were investigated by methods of molecular biology.Restriction analysis and direct sequencing of PCR products revealed in methyl-CpG binding protein 2 gene 3 differentmutations (T158M, R168X, R270X) in six unrelated patients with Rett syndrome. Mutation R306C, frequent inGreat Britain and Sweeden, was not detected in our group of patients with Rett syndrome.Conclusions. The diagnosis of Rett syndrome and genetic counselling in affected families should go out from theclose cooperation of the pediatric, neurologic, and genetic departments with the specialized laboratories dealingwith the molecular biological diagnosis.

Key words:
Rett syndrome, MeCP2 gene, DNA diagnosis.

Full text is not available online.
If interested in a scan of this journal, contact NTO ČLS JEP.

Labels
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental Hygienist
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#