A Novel Methyl-CpG Binding Protein 2 (MeCP2) Variant in an Indian Girl with Rett Syndrome
| Autor: | Pratiksha Chheda, Shailesh Pande, Tavisha Dama, Dollar Goradia, Sushant Vinarkar |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 15, Iss 4, Pp GD04-GD06 (2021) |
| Druh dokumentu: | article |
| ISSN: | 2249-782X 0973-709X |
| DOI: | 10.7860/JCDR/2020/47641.14753 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|