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Review Papers | Genomic Sciences and Bioinformatics | India | Volume 10 Issue 1, January 2021

Understanding Rett Syndrome: By Means of Genetic Mutations and Evolutionary Classification

Dr. Ramneet Kaur | Pratik Chatterjee

Abstract: RETT (RTT) syndrome is a rare genetic disorder that becomes apparent in females at about 6-18 years of age accompanied with symptoms like seizures, sleeping problems, scoliosis, difficulty in walking, breathing etc. the affected females usually have a smaller head, a characteristic of the disease which is also characterized by repeated movement of the hand to the mouth known as mouthing. The disease occurs almost exclusively in males since it is a X-linked dominant disease and is lethal in males. MECP2 (methyl CGP binding protein 2) gene codes for the MECP2 protein that is involved with the normal functioning of nerve cells, the protein binds to methylated DNA and then binds to other proteins to turn the gene off. Rett syndrome therefore more actively affects females, who, owing to X chromosome inactivation, have a mixture of cells that express either the wild-type or mutant version of MeCP2. The study has been discovered that alterations in cyclin-dependent kinase-like 5 (CDKL5) or forkhead box protein G1 (FOXG1) related to distinct neurodevelopmental disorders, caused by alterations in either one of these genes. The positions of three particular RTT-causing missense mutations—R133C, T158M and R306C, reflecting the spectrum of clinical severity among the affected patients. In this review study our aim is to provide insight to the structural features and properties, phylogenetic and interaction perspective of those mentioned proteins. This paper also indicates the disordered structure properties and evolution of those protein may provide worthy data for the development of therapeutic strategies of RTT

Keywords: Rett syndrome, cyclin-dependent kinase-like 5, forkhead box protein G1, methyl-CpG-binding protein 2, phylogenetic profile analysis, post-transcriptional modification, therapeutic strategies

Edition: Volume 10 Issue 1, January 2021,

Pages: 74 - 80