A rare case report on novel pathogenic mutation of TSC2 gene explained at molecular level

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dc.contributor.authorDey, Shankaren_US
dc.contributor.authorChakraborty, Prithaen_US
dc.contributor.authorMondal, Sunil Kantien_US
dc.date.accessioned2020-11-18T10:10:32Z
dc.date.available2020-11-18T10:10:32Z
dc.date.issued2019-04
dc.description.abstractTuberous sclerosis is a neurocutaneous genetic syndrome inherited as autosomal dominant pattern. This disease is caused by mutations of either of the tumor suppressor genes named TSC1 or TSC2 gene. It encodes for hamartin and tuberinwhich modulates mTOR pathway and regulate cell growth and proliferation. We report a case of a 7 year old child positive for pathogenic variant of TSC2 mutation having multiple seizures, angiofibromas, shagreen patch. Imaging studies are indicative of multiple calcified nodules in sub ependymal region, abnormal subcortical white matter suggestive of tuberous sclerosis. Molecular tests suggested that the mutation occurred results in alteration of splicing mechanism. Due to such alteration, the incomplete TSC2 gene encodes an altered tuberin protein i.e., unable to interact with Ras homologue enriched in brain (Rheb), leading to dysregulation of mammalian target of rapamycin (mTOR) signalling causing tuberous sclerosis disease.en_US
dc.identifier.affiliationsDepartment of Gynaecology and Obstetrics, ESI Hospital, Asansol, West Bengal, Indiaen_US
dc.identifier.affiliationsDepartment of Biotechnology, The University of Burdwan, Bardhaman, West Bengal, Indiaen_US
dc.identifier.affiliationsDepartment of Biotechnology, The University of Burdwan, Bardhaman, West Bengal, Indiaen_US
dc.identifier.citationDey Shankar, Chakraborty Pritha, Mondal Sunil Kanti. A rare case report on novel pathogenic mutation of TSC2 gene explained at molecular level. International Journal of Scientific Reports. 2019 Apr; 5(4): 107-111en_US
dc.identifier.issn2454-2456
dc.identifier.issn2454-2164
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/213935
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber4en_US
dc.relation.volume5en_US
dc.source.urihttps://dx.doi.org//10.18203/issn.2454-2156.IntJSciRep20191434en_US
dc.subjectTuberous sclerosis,Neurocutenousen_US
dc.subjectHamartinen_US
dc.subjectTuberinen_US
dc.subjectRapamycinen_US
dc.titleA rare case report on novel pathogenic mutation of TSC2 gene explained at molecular levelen_US
dc.typeJournal Articleen_US
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