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.
Hiramatsu
Hidefumi
H
Department of Pediatrics, Shiga Medical Center for Children, Moriyama-City, Japan.
Fujii
Tatsuya
T
Kitoh
Toshiyuki
T
Sawada
Machiko
M
Osaka
Mitsuhiko
M
Koami
Kenichi
K
Irino
Tamotsu
T
Miyajima
Tomoko
T
Ito
Masatoshi
M
Sugiyama
Taketoshi
T
Okuno
Takehiko
T
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