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July-September 2017 | Vol. 10 | Issue 3 | Page No 5-9
MECP2 Gene-Related Disorders
Meenakshi Lallar and Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
Address for Correspondence Email: shubharaophadke@gmail.com
Classic Rett syndrome is a neurodevelopmental disease in females caused by mutations in the MECP2 gene. With recent advancements in molecular techniques, point mutations and small and large deletions/duplications have been identified in the MECP2 gene associated with varying disease phenotypes in both males and females. This review on MECP2 gene-related disorders discusses the various disease phenotypes associated with MECP2 gene mutations.
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