{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["39(6)"],"submitter":["Hortnagel K"],"pubmed_abstract":["Vesicular protein sorting-associated proteins (VPS, including VPS11) are indispensable in the endocytic network, in particular the endosome-lysosome biogenesis. Exome sequencing revealed the homozygous variant p.Leu387_ Gly395del in the VPS11 gene in two siblings. On immunoblotting, the mutant VPS11 protein showed a distinctly reduced immunostaining intensity. The children presented with primary and severe developmental delay associated with myoclonic seizures, spastic tetraplegia, trunk and neck hypotonia, blindness, hearing loss, and microcephaly. Neuro-imaging showed severe hypomyelination affecting cerebral and cerebellar white matter and corpus callosum, in the absence of a peripheral neuropathy. Electron microscopy of a skin biopsy revealed clusters of membranous cytoplasmic bodies i"],"journal":["Journal of inherited metabolic disease"],"pagination":["849-857"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5065605"],"repository":["biostudies-literature"],"pubmed_title":["The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement."],"pmcid":["PMC5065605"],"pubmed_authors":["Krageloh-Mann I","du Bois G","Hortnagel K","Bornemann A","Harzer K","Docker M","Mayrhofer H","Biskup S","Battke F"],"additional_accession":[]},"is_claimable":false,"name":"The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.","description":"Vesicular protein sorting-associated proteins (VPS, including VPS11) are indispensable in the endocytic network, in particular the endosome-lysosome biogenesis. Exome sequencing revealed the homozygous variant p.Leu387_ Gly395del in the VPS11 gene in two siblings. On immunoblotting, the mutant VPS11 protein showed a distinctly reduced immunostaining intensity. The children presented with primary and severe developmental delay associated with myoclonic seizures, spastic tetraplegia, trunk and neck hypotonia, blindness, hearing loss, and microcephaly. Neuro-imaging showed severe hypomyelination affecting cerebral and cerebellar white matter and corpus callosum, in the absence of a peripheral neuropathy. Electron microscopy of a skin biopsy revealed clusters of membranous cytoplasmic bodies i","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Nov","modification":"2025-04-04T19:38:54.585Z","creation":"2019-03-27T02:26:45Z"},"accession":"S-EPMC5065605","cross_references":{"pubmed":["27473128"],"doi":["10.1007/s10545-016-9961-x"]}}