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

Overview

Journal Mol Genet Metab

Specialty Endocrinology

Date 2018 Sep 26

PMID 30249361

Citations 7

Authors

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

Affiliations

Soon will be listed here.

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.

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