Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset

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dc.contributor.authorCostanzo, Maria Cristinaen_US
dc.contributor.authorNicotera, Antonio Gennaroen_US
dc.contributor.authorMirella Vincien_US
dc.contributor.authorVitello, Aurelioen_US
dc.contributor.authorFiumara, Agataen_US
dc.contributor.authorCali, Francescoen_US
dc.contributor.authorMusumeci, Sebastiano Antoninoen_US
dc.date.accessioned2020-11-18T10:21:08Z
dc.date.available2020-11-18T10:21:08Z
dc.date.issued2020-04
dc.description.abstractNiemann–Pick disease type C (NPC) is a progressive lysosomal storage disorder caused by mutations in the NPC1 (in 95% of cases) or NPC2 (in *5% of cases) genes, inherited in an autosomal recessive manner. We report the case of a 38-year-old woman with learning disorder from her first year of schooling, and could notice slow progressed cognitive impairment, social withdrawal, apathy, handwriting alterations, deterioration of language skills and dysphagia. Brain magnetic resonance imaging showed severe cerebellar atrophy, hypoplasia of the corpus callosum, asymmetric lateral ventricular enlargement, and severe enlargement of frontal and parietal subarachnoid spaces. Next generation sequencing for NPC genes (NPC1 and NPC2) detected compound heterozygous mutations in NPC1 gene, including c.1553G [A (p.Arg518Gln), paternally inherited, and c.1270C [ T (p.Pro424Ser) maternally inherited. The first mutation has been already described in literature and correlated to NPC, while the second mutation is still unknown. Moreover, filipin test and quantification of plasma oxysterols confirmed NPC diagnosis. We can suggest the missense mutation c.1270C [ T (p.Pro424Ser) as a new causative mutation of NPCen_US
dc.identifier.affiliationsOasi Research Institute – IRCCS, 94018 Troina, Italyen_US
dc.identifier.affiliationsOasi Research Institute – IRCCS, 94018 Troina, Italyen_US
dc.identifier.affiliationsChild Neuropsychiatry Unit, Department of Human Pathology of the Adult and Developmental Age, University of Messina, 98125 Messina, Italyen_US
dc.identifier.affiliationsOasi Research Institute – IRCCS, 94018 Troina, Italyen_US
dc.identifier.affiliationsOasi Research Institute – IRCCS, 94018 Troina, Italyen_US
dc.identifier.affiliationsRegional Referral Centre for Inborn Errors Metabolism, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italyen_US
dc.identifier.affiliationsOasi Research Institute – IRCCS, 94018 Troina, Italyen_US
dc.identifier.affiliationsOasi Research Institute – IRCCS, 94018 Troina, Italyen_US
dc.identifier.citationCostanzo Maria Cristina, Nicotera Antonio Gennaro, Mirella Vinci, Vitello Aurelio, Fiumara Agata, Cali Francesco, Musumeci Sebastiano Antonino. Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset. Journal of Genetics. 2020 Apr; 99: 1-5en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215533
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume99en_US
dc.source.urihttps://doi.org/10.1007/s12041-020-01198-7en_US
dc.subjectcognitive impairmenten_US
dc.subjectMiglustaten_US
dc.subjectmissense mutationen_US
dc.subjectNiemann–Pick disease type Cen_US
dc.subjectNPC1 gene.en_US
dc.titleNovel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onseten_US
dc.typeJournal Articleen_US
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