Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.
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.
Abe
Akiko
A
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
Nakamura
Kazuyuki
K
Kato
Mitsuhiro
M
Numakura
Chikahiko
C
Honma
Tomomi
T
Seiwa
Chizuru
C
Shirahata
Emi
E
Itoh
Aiko
A
Kishikawa
Yumiko
Y
Hayasaka
Kiyoshi
K
D002675:Child, Preschool; D005091:Exons / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D009185:Myelin Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D012720:Severity of Illness Index
D009185:Myelin Proteins; C073687:PMP22 protein, human