A Novel Methyl-CpG Binding Protein 2 (MECP2) Variant in an Indian Girl with Rett Syndrome
Published: April 1, 2021 | DOI: https://doi.org/10.7860/JCDR/2021/47641.14753
Pratiksha Chheda, Shailesh Pande, Tavisha Dama, Dollar Goradia, Sushant Vinarkar
1. Sr. Manager, Department of Molecular Pathology, Metropolis Healthcare Ltd., Mumbai, Maharashtra, India.
2. Head, Department of Medical Genetics, Metropolis Healthcare Ltd., Mumbai, Maharashtra, India.
3. Scientific Officer, Department of Molecular Pathology, Metropolis Healthcare Ltd., Mumbai, Maharashtra, India.
4. Scientific Officer, Department of Molecular Pathology, Metropolis Healthcare Ltd., Mumbai, Maharashtra, India.
5. Head, Department of Molecular Pathology, Metropolis Healthcare Ltd., Mumbai, Maharashtra, India.
Correspondence
Dr. Pratiksha Chheda,
Metropolis Healthcare Ltd., Unit No. 409 to 416, 4th Floor, Commercial Building
A, Kohinoor City, Near Kohinoor Mall, Kirol Road, Kurla-W, Mumbai-400070,
Maharashtra, India.
E-mail: pratikshad13@gmail.com
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.
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