Ontology highlight
ABSTRACT:
SUBMITTER: Lines MA
PROVIDER: S-EPMC5558182 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Lines Matthew A MA Ito Yoko Y Kernohan Kristin D KD Mears Wendy W Hurteau-Miller Julie J Venkateswaran Sunita S Ward Leanne L Khatchadourian Karine K McClintock Jeff J Bhola Priya P Campeau Philippe M PM Boycott Kym M KM Michaud Jean J van Kuilenburg André Bp AB Ferdinandusse Sacha S Dyment David A DA
European journal of human genetics : EJHG 20170621 9
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)P<sub>2</sub>] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3 ...[more]