Severe CMT 1A: Compound heterozygous PMP22 deletion mutations

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J Hum Genet. 2010 Aug 26

Compound heterozygous PMP22 deletion mutations causing severe

Charcot-Marie-Tooth disease type 1.

Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A,

Kishikawa Y, Hayasaka K.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata,

Japan.

Abstract

We present a 3(1/3)-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.