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Journal of Autism and Developmental Disorders

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01-03-2014 | Brief Report

Brief Report: MECP2 Mutations in People Without Rett Syndrome

Auteurs: Bernhard Suter, Diane Treadwell-Deering, Huda Y. Zoghbi, Daniel G. Glaze, Jeffrey L. Neul

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2014

Abstract

Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient’s symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria.

vorige artikel Brief Report: Broad Autism Phenotype in Adults is Associated with Performance on an Eye-Tracking Measure of Joint Attention

volgende artikel Brief Report: Diminishing Geographic Variability in Autism Spectrum Disorders Over Time?

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Titel: Brief Report: MECP2 Mutations in People Without Rett Syndrome
Auteurs: Bernhard Suter
Diane Treadwell-Deering
Huda Y. Zoghbi
Daniel G. Glaze
Jeffrey L. Neul
Publicatiedatum: 01-03-2014
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 3/2014
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-013-1902-z

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