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. In Jun 21, 2017, Matthew A Lines and others published an article in << European Journal of Human Genetics >> which title is“Yunis-Varón syndrome caused by biallelic VAC14 mutations”. They 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 and report that VAC14 is a second gene for Yunis-Varón syndrome.
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