A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita.
The authors report 2 male patients with dyskeratosis congenita (DC) in a Japanese kindred. Sequencing of the complementary DNA of the dyskerin gene (DKC1) revealed a T-to-C transition at nucleotide 1285 in exon 12 that resulted in a novel missense mutation L398P. Despite harboring the same mutation in the DKC1 gene, one patient had significantly milder hematological symptoms than the other, indicating that there may be other factors that determine the severity of DC.
Department of Pediatrics, Shiga Medical Center for Children, Moriyama-City, Japan.
Hidefumi
H
Hiramatsu
Tatsuya
T
Fujii
Toshiyuki
T
Kitoh
Machiko
M
Sawada
Mitsuhiko
M
Osaka
Kenichi
K
Koami
Tamotsu
T
Irino
Tomoko
T
Miyajima
Masatoshi
M
Ito
Taketoshi
T
Sugiyama
Takehiko
T
Okuno
D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D041321:Chromosomes, Human, X; D018076:DNA, Complementary / Q000737:chemistry; D019871:Dyskeratosis Congenita / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D018076:DNA, Complementary; D009687:Nuclear Proteins