Vici Syndrome with a Novel Mutation in EPG5

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dc.contributor.authorMoirangthem, Amitaen_US
dc.contributor.authorMandal, Kausiken_US
dc.contributor.authorGhosh, Apurbaen_US
dc.contributor.authorPhadke, Shubha Ren_US
dc.date.accessioned2020-04-23T07:44:23Z
dc.date.available2020-04-23T07:44:23Z
dc.date.issued2019-07
dc.description.abstractBackground: Vici syndrome is a neurodevelopmental disorder of the autophagy pathway.Almost all cases reported have the cardinal features of agenesis of corpus callosum,cataract, cardiomyopathy, immunodeficiency and hypopigmentation. Casecharacteristics: 8-month-old boy with developmental delay, myoclonic jerks, repeatedrespiratory infections, coarse facial features, cataract and hypopigmented hair.Echocardiography revealed dilated cardiomyopathy and magnetic resonance imaging ofbrain suggested agenesis of corpus callosum. Exome sequencing detected a novelhomozygous nonsense mutation in the EPG5 gene. Outcome: Establishing a definitediagnosis helped in proper prognostication, providing genetic counseling and prenataldiagnosis to the family. Message: Though uncommon, presence of the characteristicfeatures makes Vici syndrome a clinically recognizable cause of developmental delay.en_US
dc.identifier.affiliationsDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, UttarPradesh, Indiaen_US
dc.identifier.affiliationsInstitute of Child Health, Kolkata, West Bengal, Indiaen_US
dc.identifier.citationMoirangthem Amita, Mandal Kausik, Ghosh Apurba, Phadke Shubha R. Vici Syndrome with a Novel Mutation in EPG5. Indian Pediatrics. 2019 Jul; 56(7): 603-606en_US
dc.identifier.issn0974-7559
dc.identifier.issn0019-6061
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/199357
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber7en_US
dc.relation.volume56en_US
dc.source.urihttps://www.indianpediatrics.net/july2019/603.pdfen_US
dc.titleVici Syndrome with a Novel Mutation in EPG5en_US
dc.typeJournal Articleen_US
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