title: Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.
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.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Abe
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Nakamura
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Chikahiko
authors.initials: C
authors.lastname: Numakura
authors.forename: Tomomi
authors.initials: T
authors.lastname: Honma
authors.forename: Chizuru
authors.initials: C
authors.lastname: Seiwa
authors.forename: Emi
authors.initials: E
authors.lastname: Shirahata
authors.forename: Aiko
authors.initials: A
authors.lastname: Itoh
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Kishikawa
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: 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
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human