RNF220 and leukocyte adhesion deficiency: Whole-exome sequencing in seven nuclear families characterized by progressive ataxia and deafness (AR-LAD) combined with fibrotic cardiomyopathy and hepatopathy as major associated features recently revealed that 2 homozygous missense variants (p.R363Q and p.R365Q) in RNF220 may be the causative event underlying this novel syndromic leukodystrophy AR-LAD, a neurodegenerative diseases.180 The p.R363Q and p.R365Q mutations affect RNF220 subcellular localization and enhance cytoplasmic aggregation.