Phenotypic presentation of the Ser63Del MPZ mutation

Lindsey J Miller; Agnes Patzko; Richard A Lewis; Michael E Shy

doi:10.1111/j.1529-8027.2012.00398.x

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Phenotypic presentation of the Ser63Del MPZ mutation

Journal article

Peer reviewed

Phenotypic presentation of the Ser63Del MPZ mutation

Lindsey J Miller, Agnes Patzko, Richard A Lewis and Michael E Shy

Journal of the peripheral nervous system, Vol.17(2), pp.197-200

06/2012

DOI: 10.1111/j.1529-8027.2012.00398.x

PMCID: PMC3731745

PMID: 22734905

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Abstract

Mutations in MPZ cause CMT1B, the second most frequent cause of CMT1. Elegant studies with Ser63del mice suggest that Ser63del MPZ is retained in the ER where it activates the unfolded protein response (UPR) that contributes to the neuropathy. Clinical information about patients with this mutation is limited. We present clinical and electrophysiological data on a large multigenerational family with CMT1B caused by Ser63del MPZ. The patients have a classical CMT1 phenotype that is much less severe than that of patients with Arg98Cys MPZ that also activates the UPR. These results suggest that clinical presentation along cannot predict which MPZ mutations will be retained in the ER and activate the UPR.

Unfolded Protein Response - genetics

Humans

Child, Preschool

Infant

Male

Charcot-Marie-Tooth Disease - genetics

Phenotype

Pedigree

Adolescent

Age of Onset

Myelin P0 Protein - genetics

Adult

Female

Aged

Charcot-Marie-Tooth Disease - physiopathology

Electrophysiological Phenomena

Mutation

Child

Details

Title: Subtitle: Phenotypic presentation of the Ser63Del MPZ mutation
Creators: Lindsey J Miller - Department of Neurology Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USA
Agnes Patzko
Richard A Lewis
Michael E Shy
Resource Type: Journal article
Publication Details: Journal of the peripheral nervous system, Vol.17(2), pp.197-200
DOI: 10.1111/j.1529-8027.2012.00398.x
PMID: 22734905
PMCID: PMC3731745
NLM abbreviation: J Peripher Nerv Syst
ISSN: 1085-9489
eISSN: 1529-8027
Publisher: United States
Grant note: R01 NS041319 / NINDS NIH HHS U54NS065712-01 / NINDS NIH HHS R01 NS41319A / NINDS NIH HHS U54 NS065712 / NINDS NIH HHS
Language: English
Date published: 06/2012
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020604202771

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