Refining the phenotype of common mutations in Rett syndrome

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Authors

Lyn Colvin · The Kids Research Institute Australia

H Leonard · Department of the Premier and Cabinet

N de Klerk · The Kids Research Institute Australia

M Davis · University of Western Australia

L Weaving · University of Sydney

S Williamson · Children's Hospital at Westmead

J Christodoulou · University of Sydney

Abstract

N A less severe phenotype was found in the region after the TRD-NLS including the C-terminal region. R270X, located in the NLS of the TRD, was the most severe of the common mutations, in direct contrast to R294X, which was also found in the TRD domain but after the NLS and had a milder phenotype.

Topics & Keywords

Genetics and Neurodevelopmental Disorders Autism Spectrum Disorder Research Family and Disability Support Research

UN Sustainable Development Goals

Quality Education

Publication Details

Published in: Journal of Medical Genetics

Volume 41, Issue 1, pp. 25-30

DOI: 10.1136/jmg.2003.011130

Field-Weighted Citation Impact: 4.69