Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

Akiko Abe; Kazuyuki Nakamura; Mitsuhiro Kato; Chikahiko Numakura; Tomomi Honma; Chizuru Seiwa; Emi Shirahata; Aiko Itoh; Yumiko Kishikawa; Kiyoshi Hayasaka

doi:10.1038/jhg.2010.106

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

J Hum Genet. 2010 Nov;55(11):771-3. doi: 10.1038/jhg.2010.106. Epub 2010 Aug 26.

Authors

Akiko Abe¹, Kazuyuki Nakamura, Mitsuhiro Kato, Chikahiko Numakura, Tomomi Honma, Chizuru Seiwa, Emi Shirahata, Aiko Itoh, Yumiko Kishikawa, Kiyoshi Hayasaka

Affiliation

¹ Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

PMID: 20739940
DOI: 10.1038/jhg.2010.106

Abstract

We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2 kb deletion spanning from intron 4 to 3'-region of PMP22, which was likely generated by nonhomologous end joining. Severely affected patients carrying a PMP22 deletion must be analyzed for the mutations of the other copy of PMP22.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
Exons / genetics*
Female
Gene Deletion*
Hereditary Sensory and Motor Neuropathy / genetics*
Hereditary Sensory and Motor Neuropathy / physiopathology
Heterozygote*
Humans
Myelin Proteins / genetics*
Sequence Deletion / genetics*
Severity of Illness Index

Substances

Myelin Proteins
PMP22 protein, human