Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

TitleIdentification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Publication TypeJournal Article
Year of Publication2018
AuthorsPunetha, J, Mackay-Loder, L, Harel, T, Coban-Akdemir, Z, Jhangiani, SN, Gibbs, RA, Lee, I, Terespolsky, D, Lupski, JR, Posey, JE
JournalMol Genet Metab
Date Published2018 Aug 24
ISSN1096-7206
Abstract

Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testing failed to conclude a molecular diagnosis. We found a PMP2 pathogenic variant c.155T > C, p.(Ile52Thr) that segregates with disease suggesting that PMP2 variants should be considered in patients with neuropathy and that it may be prudent to include in clinical CMT gene panels.

DOI10.1016/j.ymgme.2018.08.005
Alternate JournalMol. Genet. Metab.
PubMed ID30249361
Grant ListK08 HG008986 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States