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Mol Genet Metab. 2018 Nov;125(3):302-304. doi: 10.1016/j.ymgme.2018.08.005. Epub 2018 Aug 24.

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.

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
2
Department of Laboratory Medicine - Genetics Program, Trillium Health Partners, Mississauga, ON L5M 2N1, Canada.
3
Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel.
4
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
5
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
6
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
7
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: Jennifer.Posey@bcm.edu.

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.

KEYWORDS:

CMT; Charcot-Marie-Tooth disease; Myelin P2 protein; PMP2; Peripheral myelin protein 2; Peripheral neuropathy

PMID:
30249361
PMCID:
PMC6326168
[Available on 2019-11-01]
DOI:
10.1016/j.ymgme.2018.08.005

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