A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
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ABSTRACT:
SUBMITTER: Bjornsdottir G
PROVIDER: S-EPMC6468012 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
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A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
Bjornsdottir Gyda G Ivarsdottir Erna V EV Bjarnadottir Kristbjorg K Benonisdottir Stefania S Gylfadottir Sandra Sif SS Arnadottir Gudny A GA Benediktsson Rafn R Halldorsson Gisli Hreinn GH Helgadottir Anna A Jonasdottir Adalbjorg A Jonasdottir Aslaug A Jonsdottir Ingileif I Kristinsdottir Anna Margret AM Magnusson Olafur Th OT Masson Gisli G Melsted Pall P Rafnar Thorunn T Sigurdsson Asgeir A Sigurdsson Gunnar G Skuladottir Astros A Steinthorsdottir Valgerdur V Styrkarsdottir Unnur U Thorgeirsson Gudmundur G Thorleifsson Gudmar G Vikingsson Arnor A Gudbjartsson Daniel F DF Holm Hilma H Stefansson Hreinn H Thorsteinsdottir Unnur U Norddahl Gudmundur L GL Sulem Patrick P Thorgeirsson Thorgeir E TE Stefansson Kari K
Nature communications 20190416 1
Nerve conduction (NC) studies generate measures of peripheral nerve function that can reveal underlying pathology due to axonal loss, demyelination or both. We perform a genome-wide association study of sural NC amplitude and velocity in 7045 Icelanders and find a low-frequency splice-donor variant in PRPH (c.996+1G>A; MAF = 1.32%) associating with decreased NC amplitude but not velocity. PRPH encodes peripherin, an intermediate filament (IF) protein involved in cytoskeletal development and main ...[more]
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2010-09-24 | GSE24290 | GEO
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