Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls

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dc.contributor.authorLallar, Meenakshien_US
dc.contributor.authorRai, Archanaen_US
dc.contributor.authorSrivastava, Priyankaen_US
dc.contributor.authorMandal, Kausiken_US
dc.contributor.authorGupta, Neerjaen_US
dc.contributor.authorKabra, Madhulikaen_US
dc.contributor.authorPhadke, Shubha Ren_US
dc.date.accessioned2020-04-23T07:42:26Z
dc.date.available2020-04-23T07:42:26Z
dc.date.issued2018-06
dc.description.abstractObjective: To assess yield of MECP2 gene sequence variationsanalysis and large deletions in suspected cases of Rettsyndrome.Design: Descriptive study.Setting: Tertiary-care medical genetics center.Patients: Girls with neuroregression, postnatal microcephaly andsigns and symptoms suggestive of classical and atypical Rettsyndrome were classified into two groups. Group I consisted ofgirls with Classical and atypical Rett syndrome on basis on theRevised Rett Syndrome diagnostic criteria, 2010. Group II includedgirls with neuroregression and postnatal microcephaly and otherRett like features but not fulfilling the above criteria.Procedure: Sanger sequencing of coding regions and largedeletional analysis of MECP2 gene.Outcome measure: Identification of mutation in MECP2 gene.Result: Mutation in MECP2 gene was identified in 74% (14/19) ingroup I and none (0/17) in group II. The mutation detection ratewas 93% (13/14) in group I classical Rett syndrome girls (2 withlarge deletions identified with Multiplex ligation dependent probeamplification) and 20% (1/5) in group I atypical Rett syndromegirls. One novel MECP2 sequence variation was identified ingroup I classical Rett syndrome.Conclusion: The yield of the mutation detection in MECP2 ishigher in classical Rett syndrome. In girls with some Rett likefeatures, but not fulfilling revised Rett syndrome diagnosticcriteria, mutation testing for MECP2 gene has a low yielden_US
dc.identifier.affiliationsDepartment of Medical Genetics, SGPGI, Lucknow, Uttar Pradeshen_US
dc.identifier.affiliationsGenetics Division, Department of Pediatrics, AIIMS, New Delhi; Indiaen_US
dc.identifier.citationLallar Meenakshi, Rai Archana, Srivastava Priyanka, Mandal Kausik, Gupta Neerja, Kabra Madhulika, Phadke Shubha R. Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls. Indian Pediatrics. 2018 Jun; 55(6): 474-476en_US
dc.identifier.issn0974-7559
dc.identifier.issn0019-6061
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/198982
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber6en_US
dc.relation.volume55en_US
dc.source.urihttps://www.indianpediatrics.net/june2018/474.pdfen_US
dc.subjectMLPAen_US
dc.subjectMutation testingen_US
dc.subjectSanger sequencingen_US
dc.titleMolecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girlsen_US
dc.typeJournal Articleen_US
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