Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Helena F PerniceLuke Francis O'DonnellAlexander Martin RossorMatilde LauraChristopher J RecordMariola SkorupinskaJulian BlakeRoy PohJames PolkeMary M ReillyPublished in: Journal of the peripheral nervous system : JPNS (2023)
To the best of our knowledge, this is the first case with concomitant pathogenic variants in the FLNA and UCHL1 genes which explain the complex phenotype. The severe preganglionic sensory loss is also a rare finding and expands the phenotype of UCHL1 variants.