Journal article

Correlation between clinical severity in patients with Rett Syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

Hayley Archer, Julie Evans, Helen Leonard, Lyn Colvin, David Ravine, John Christodoulou, Sarah Williamson, Tony Charman, Mark ES Bailey, Julian Sampson, Nicholas de Klerk, Angus Clarke

JOURNAL OF MEDICAL GENETICS | BMJ PUBLISHING GROUP | Published : 2007

Abstract

INTRODUCTION: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. The most common mutations in the gene are p.R168X and p.T158M. The influence of X-chromosome inactivation (XCI) on clinical severity in patients with RTT with these mutations was investigated, taking into account the extent and direction of skewing. METHODS: Female patients and their parents were recruited from the UK and Australia. Clinical severity was measured by the Pineda Severity and Kerr profile scores. The degree of XCI and its direction relative to the X chromosome parent of origin were measured in DNA prepared from peripheral blood leuco..

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