A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

In Soo Joo; Chang-Seok Ki; Sung Yeol Joo; Kyoon Huh; Jong-Won Kim

doi:10.1016/j.nmd.2004.02.009

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

Neuromuscul Disord. 2004 May;14(5):325-8. doi: 10.1016/j.nmd.2004.02.009.

Authors

In Soo Joo¹, Chang-Seok Ki, Sung Yeol Joo, Kyoon Huh, Jong-Won Kim

Affiliation

¹ Department of Neurology, Ajou University School of Medicine, Suwon, South Korea.

PMID: 15099592
DOI: 10.1016/j.nmd.2004.02.009

Abstract

Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22.

Publication types

Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Arginine / genetics
Charcot-Marie-Tooth Disease / complications
Charcot-Marie-Tooth Disease / genetics*
DNA Mutational Analysis
Exons
Family Health*
Female
Hearing Loss, Sensorineural / complications
Hearing Loss, Sensorineural / genetics*
Humans
Male
Myelin Proteins / genetics*
Pedigree
Phenotype
Point Mutation*
Threonine / genetics

Substances

Myelin Proteins
PMP22 protein, human
Threonine
Arginine