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.

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. Copyright © 2018 Elsevier Inc. All rights reserved.

Citation

Jaya Punetha, Loren Mackay-Loder, Tamar Harel, Zeynep Coban-Akdemir, Shalini N Jhangiani, Richard A Gibbs, Ian Lee, Deborah Terespolsky, James R Lupski, Jennifer E Posey. 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. Molecular genetics and metabolism. 2018 Nov;125(3):302-304

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PMID: 30249361

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