Open AccessA Novel Methyl-CpG Binding Protein 2 (MECP2) Variant in an Indian Girl with Rett Syndrome
Author(s) -
Pratiksha Chheda,
Shailesh Pande,
Tavisha Dama,
Dollar Goradia,
Sushant Vinarkar
Publication year - 2021
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2020/47641.14753
Subject(s) - mecp2 , rett syndrome , missense mutation , neurodevelopmental disorder , girl , intellectual disability , medicine , autism , disease , genetics , pediatrics , mutation , gene , psychiatry , biology , phenotype
Rett syndrome is an X-linked dominant disorder that is primarily seen in females and is linked to mutations in the gene coding for Methyl-CpG Binding Protein 2 (MECP2). It is a neurodevelopmental disorder characterised by impairments in language, repetitive movements, early-onset seizures, delayed growth, autistic features, intellectual disability and abnormal Electroencephalograms (EEG). Author’s reported a case of three year six months old Indian girl who was born of a nonconsanguineous marriage presented with stereotypic hand movements, gradual loss of speech, inability to walk independently and frequent episodes of seizure. Genetic testing for analysis of MECP2 mutations was performed and a novel de novo missense variant (c.361G>A, p.Asp121Asn) was identified, which was predicted to be disease causing on the basis of insilico analysis and clinical findings. The study suggested that a careful evaluation of the pathogenic nature of MECP2 variants supports clinical diagnosis and aids in genetic counseling and patient management.