Clinical and radiological characterization of novel FIG4‐related combined system disease with neuropathy

Variants in the FIG4 gene, which encodes a phosphatidylinositol‐3,5‐bisphosphatase lead to obstruction of endocytic trafficking, causing accumulation of enlarged vesicles in murine peripheral neurons and fibroblasts. Bi‐allelic pathogenic variants in FIG4 are associated with neurological disorders including Charcot‐Marie‐Tooth disease type‐4J (CMT4J) and Yunis‐Varón syndrome (YVS). We present four probands from three unrelated families, all...