Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study

Rajni Khajuria,Manju Ghosh,Kees E P Van Roozendaal,Savita Sapra,Leopold M G Curfs,Eric E J Smeets,Sheffali Gulati,Neerja Gupta,Madhulika Kabra

doi:10.20517/jtgg.2020.06

Abstract

Aim: This study aimed to characterize MECP2 gene variants in Indian female patients with classical Rett syndrome (RTT).

Highlights

Rett syndrome (RTT, OMIM #312750) is a childhood neurodevelopmental disorder primarily affecting females
RTT is a childhood neurodevelopmental disorder primarily affecting females. It is caused by mutations in the Methyl-CpG-Binding Protein 2 gene (MECP2 ), an important regulator of gene expression, located at Xq28
Variants in MECP2 can be identified in 95%-97% of individuals with Classical RTT using a combination of molecular techniques

Summary

Introduction

Rett syndrome (RTT, OMIM #312750) is a childhood neurodevelopmental disorder primarily affecting females. It is caused by mutations in the Methyl-CpG-Binding Protein 2 gene (MECP2, OMIM *300005), an important regulator of gene expression, located at Xq28[1]. A staging system has been developed as a framework that delineates the evolving symptoms. This includes stages of early-onset stagnation, rapid developmental regression, a pseudo-stationary stage, and late motor deterioration. The multi-functionality of MECP2 suggests there are many downstream pathways that are interesting for understanding the pathophysiology of RTT

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