| http://purl.uniprot.org/citations/28635952 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28635952 | http://www.w3.org/2000/01/rdf-schema#comment | "Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment. Here, we present the case of a female neonate with clinical features of YVS and normal FIG4 sequencing; exome sequencing identified biallelic rare coding variants in VAC14. Cultured patient fibroblasts exhibited a YVS-like vacuolation phenotype ameliorated in a dose-dependent fashion by ML-SA1, a pharmacological activator of the lysosomal PtdIns(3,5)P2 effector TRPML1. The patient developed a diffuse leukoencephalopathy with loss of the normal N-acetylaspartate spectrographic peak and presence of a large abnormal peak consistent with myoinositol. We report that VAC14 is a second gene for Yunis-Varón syndrome."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2017.99"xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Campeau P.M."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Ito Y."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Venkateswaran S."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Ward L."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Boycott K.M."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Kernohan K.D."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Ferdinandusse S."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Mears W."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Dyment D.A."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Michaud J."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Lines M.A."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "van Kuilenburg A.B."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Khatchadourian K."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "McClintock J."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Bhola P."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/author | "Hurteau-Miller J."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/name | "Eur J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/pages | "1049-1054"xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/title | "Yunis-Varon syndrome caused by biallelic VAC14 mutations."xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://purl.uniprot.org/core/volume | "25"xsd:string |
| http://purl.uniprot.org/citations/28635952 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28635952 |