De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

Joohyun ParkBianca R FloresKatalin SchererHanna KuepperMari RossiKatrin RupprichMaren RautenbergNatalie DeiningerAnnette WeichselbaumAlexander GrimmMarc SturmUte GrasshoffEric DelpireTobias B Haack

Published in: Journal of medical genetics (2019)

Our findings expand the genotypic and phenotypic spectrum associated with SLC12A6 variants from autosomal-recessive HMSN/ACC to dominant-acting de novo variants causing a milder clinical presentation with early-onset neuropathy.

Keyphrases

early onset
late onset
copy number
functional connectivity
intellectual disability