PRJNA723675
Homozygous mutation of phospholipase D3 causes a new leukoencephalopathy syndrome
we identified a novel homozygous mutation (NM_012268.3: c.186C>G/ p.Y62X) of PLD3 in a consanguineous family with white matter lesions, hearing and vision loss, and kidney disease. This homozygous mutation of PLD3 (p.Y62X) may be first reported in leukoencephalopathy related patient worldwide.