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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Authors :
Schönewolf-Greulich, Bitten
Tejada, Maria-Isabel
Stephens, K
Hadzsiev, K
Gauthier, J
Brøndum-Nielsen, Karen
Pfundt, R
Ravn, Kirstine Johanne Theresia
Maortua, H
Gener, B
Martínez-Bouzas, C
Piton, A
Rouleau, G
Clayton-Smith, J
Kleefstra, T
Bisgaard, Anne-Marie
Tümer, Zeynep
Schönewolf-Greulich, Bitten
Tejada, Maria-Isabel
Stephens, K
Hadzsiev, K
Gauthier, J
Brøndum-Nielsen, Karen
Pfundt, R
Ravn, Kirstine Johanne Theresia
Maortua, H
Gener, B
Martínez-Bouzas, C
Piton, A
Rouleau, G
Clayton-Smith, J
Kleefstra, T
Bisgaard, Anne-Marie
Tümer, Zeynep
Source :
Schönewolf-Greulich , B , Tejada , M-I , Stephens , K , Hadzsiev , K , Gauthier , J , Brøndum-Nielsen , K , Pfundt , R , Ravn , K J T , Maortua , H , Gener , B , Martínez-Bouzas , C , Piton , A , Rouleau , G , Clayton-Smith , J , Kleefstra , T , Bisgaard , A-M & Tümer , Z 2016 , ' The MECP2 variant c.925C >T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome ' , Clinical Genetics , vol. 89 , no. 6 , pp. 733-738 .
Publication Year :
2016

Abstract

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues.

Details

Database :
OAIster
Journal :
Schönewolf-Greulich , B , Tejada , M-I , Stephens , K , Hadzsiev , K , Gauthier , J , Brøndum-Nielsen , K , Pfundt , R , Ravn , K J T , Maortua , H , Gener , B , Martínez-Bouzas , C , Piton , A , Rouleau , G , Clayton-Smith , J , Kleefstra , T , Bisgaard , A-M & Tümer , Z 2016 , ' The MECP2 variant c.925C >T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome ' , Clinical Genetics , vol. 89 , no. 6 , pp. 733-738 .
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1322693154
Document Type :
Electronic Resource