Two novel mutations in the MECP2 gene in patients with Rett syndrome.

Autor: Khalili Alashti S; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: shayan.khalilii@gmail.com., Fallahi J; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Mohammadi S; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran., Dehghanian F; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran., Farbood Z; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran., Masoudi M; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran., Poorang S; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran., Jokar A; Department of Medical Biotechnology, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran., Fardaei M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: mfardaei@sums.ac.ir.
Jazyk: angličtina
Zdroj: Gene [Gene] 2020 Mar 30; Vol. 732, pp. 144337. Date of Electronic Publication: 2020 Jan 17.
DOI: 10.1016/j.gene.2020.144337
Abstrakt: Rett syndrome (RTT) is an X-linked severe neurological disorder. Mutations in Methyl-CpG-Binding Protein2 (MECP2) gene are the main cause of RTT disease. In this study, we report the results of screening the MECP2 gene for mutations in 7 Iranian patients with RTT syndrome. MECP2 sequencing identified two novel mutations in the heterozygous state, a splice mutation, c.354G>T, p.Gly119Gly, resulting in a premature splice-donor site and a 20-bp deletion, c.1167-1186del20 (p.P390Rfs), leading to modifying the c-terminal parts of the protein and it also changes the reading frames of all coding sequence downstream of the mutation. Multiple sequence alignment showed that amino acid changes occurred in the well conserved protein regions across species. Based on the results of this study and literature reviews, about 70% of mutations are found in exon 3 and 4 of the MECP2 gene, and mutations in exon 4 are more common than other exons. Therefore, it is recommended that exon 4 to be a priority for screening the genetic analysis of RTT patients.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2020 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: