Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation

Journal of Child Neurology
Nourhene Fendri-KriaaTunisian Network on Mental Retardation

Abstract

Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical polyadenylation site in the 3(')UTR of the MECP2 gene. We also detected in another patient a new variant c.1461+92C>G in the 3(')UTR located previous to 34 bp from the polyadenylation site with a score of 4.085. This variation is located in a hypothetical splicing enhancer with a score of 1.96277 according to the ESE finder program. In the remaining 5 patients, we found 2 common mutations: p.T158M in 4 individuals and p.R168X in only 1 girl.

References

Dec 1, 1999·American Journal of Human Genetics·M WanU Francke
Mar 26, 2003·American Journal of Medical Genetics. Part a·Linda S WeavingJohn Christodoulou
May 19, 2006·Nature Reviews. Genetics·Thierry Bienvenu, Jamel Chelly
Mar 8, 2007·Annals of the New York Academy of Sciences·Tanja MatijevićJasminka Pavelić
Apr 12, 2007·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Ana M CoutinhoAstrid M Vicente
Jul 26, 2008·Genetic Testing·David J Bunyan, David O Robinson
Oct 25, 2008·European Neurology·Tanja MatijevicJasminka Pavelic
Mar 25, 2009·Genetic Testing and Molecular Biomarkers·Nourhène Fendri-KriaaFaiza Fakhfakh

❮ Previous
Next ❯

Citations

May 9, 2012·Gene·Nourhene Fendri-KriaaFaiza Fakhfakh
May 18, 2011·Biochemical and Biophysical Research Communications·Nourhene Fendri-KriaaUNKNOWN Tunisian network on mental retardation study
Oct 31, 2015·Cell Regeneration·Heather McGowan, Zhiping P Pang
Jul 19, 2020·Human Molecular Genetics·Deivid Carvalho RodriguesJames Ellis
Feb 28, 2021·Journal of Neurochemistry·Santosh R D'Mello

❮ Previous
Next ❯

Related Concepts

Related Feeds

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.