A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene

► Sequencing of the MECP2 gene, modeling and comparison of the two variants were performed in a Tunisian classical Rett patient. ► A double-mutation: a new and de novo mutation c.535C > T and the common one c.763C > T of the MECP2 gene was identified. ► The P179S transition may change local el...

Full description

Saved in:
Bibliographic Details
Published in:Biochemical and biophysical research communications 2011-06, Vol.409 (2), p.270-274
Main Authors: Fendri-Kriaa, Nourhene, Hsairi, Ines, Kifagi, Chamseddine, Ellouze, Emna, Mkaouar-Rebai, Emna, Triki, Chahnez, Fakhfakh, Faiza
Format: Article
Language:English
Subjects:
60 APPLIED LIFE SCIENCES
Amino Acid Sequence
Amino acids
Child
CRIR
Developmental stages
DNA Mutational Analysis
Double mutation
Electrostatic properties
Female
GENES
Hereditary diseases
Humans
HYDROXIDES
Language
MECP2 gene
MeCP2 protein
Methyl-CpG binding protein
Methyl-CpG-Binding Protein 2 - chemistry
Methyl-CpG-Binding Protein 2 - genetics
Molecular Sequence Data
Mutation
MUTATIONS
p.P179S
p.R255X
PATIENTS
Protein Structure, Tertiary
PROTEINS
Rett syndrome
Rett Syndrome - blood
Rett Syndrome - genetics
SERINE
SIMULATION
Static Electricity
TRANSCRIPTION
TRD-NLS
X chromosome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:► Sequencing of the MECP2 gene, modeling and comparison of the two variants were performed in a Tunisian classical Rett patient. ► A double-mutation: a new and de novo mutation c.535C > T and the common one c.763C > T of the MECP2 gene was identified. ► The P179S transition may change local electrostatic properties which may affect the function and stability of the protein MeCP2. Rett syndrome is an X-linked dominant disorder caused frequently by mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Rett patients present an apparently normal psychomotor development during the first 6–18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. The aim of this study was to perform a mutational analysis of the MECP2 gene in a classical Rett patient by sequencing the corresponding gene and modeling the found variants. The results showed the presence of a double-mutation: a new and de novo mutation c.535C > T (p.P179S) and the common c.763C > T (p.R255X) transition of the MECP2 gene. The p.P179S mutation was located in a conserved amino acid in CRIR domain (corepressor interacting region). Modeling results showed that the P179S transition could change local electrostatic properties by adding a negative charge due to serine hydroxyl group of this region of MeCP2 which may affect the function and stability of the protein. The p.R255X mutation is located in TRD-NLS domain (transcription repression domain-nuclear localization signal) of MeCP2 protein.
ISSN:0006-291X
1090-2104
DOI:10.1016/j.bbrc.2011.04.140