Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion

Nivedita U Jerath; John Kamholz; Tiffany Grider; Amy Harper; Andrea Swenson; Michael E Shy

doi:10.1002/mus.24713

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Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion

Journal article

Peer reviewed

Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion

Nivedita U Jerath, John Kamholz, Tiffany Grider, Amy Harper, Andrea Swenson and Michael E Shy

Muscle & nerve, Vol.52(5), pp.905-908

11/2015

DOI: 10.1002/mus.24713

PMCID: PMC4596757

PMID: 26012543

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Abstract

We describe a 6-year-old girl with a T118M PMP22 mutation and heterozygous deletion of PMP22 on chromosome 17 (17p11.2-p12) resulting in a severe sensorimotor polyneuropathy. This study is a case report in which the relevant mutations are described. Foot pain, cavovarus feet, tibialis anterior atrophy, absent reflexes, and inability to walk were found when the patient was age 6 years. Nerve conduction studies showed evidence of a sensorimotor polyneuropathy and compressive mononeuropathies of bilateral median nerves at the wrist and ulnar nerves at the elbow. Genetic testing revealed deletion of a PMP22 allele and T118M PMP22 mutation in the remaining allele. The severe sensorimotor polyneuropathy and hereditary neuropathy with liability to pressure palsies (HNPP) in this patient was likely a consequence of both decreased expression of PMP22 causing features consistent with HNPP and unopposed expression of the T118M mutant form of PMP22 that is relatively benign in the heterozygous state. The T118M mutant form of PMP22 can be disease-modifying in the appropriate circumstances.

Chromosome Deletion

Smith-Magenis Syndrome - genetics

Pedigree

Humans

Polyneuropathies - diagnosis

Polyneuropathies - genetics

Polyneuropathies - surgery

Female

Child

Myelin Proteins - genetics

Chromosomes, Human, Pair 17 - genetics

Mutation, Missense - genetics

Details

Title: Subtitle: Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion
Creators: Nivedita U Jerath - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, Iowa, 52246, USA
John Kamholz - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, Iowa, 52246, USA
Tiffany Grider - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, Iowa, 52246, USA
Amy Harper - Department of Pediatric Neurology, Carolinas Healthcare System, Charlotte, North Carolina, USA
Andrea Swenson - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, Iowa, 52246, USA
Michael E Shy - Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, Iowa, 52246, USA
Resource Type: Journal article
Publication Details: Muscle & nerve, Vol.52(5), pp.905-908
DOI: 10.1002/mus.24713
PMID: 26012543
PMCID: PMC4596757
NLM abbreviation: Muscle Nerve
ISSN: 0148-639X
eISSN: 1097-4598
Publisher: United States
Grant note: U54NS065712 / NINDS NIH HHS R01 NS075764 / NINDS NIH HHS U54 NS065712 / NINDS NIH HHS
Language: English
Date published: 11/2015
Academic Unit: Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020752702771

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