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...

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Bibliographic Details
Published in:Pediatric hematology and oncology 2002-09, Vol.19 (6), p.413-419
Main Authors: Hiramatsu, Hidefumi, Fujii, Tatsuya, Kitoh, Toshiyuki, Sawada, Machiko, Osaka, Mitsuhiko, Koami, Kenichi, Irino, Tamotsu, Miyajima, Tomoko, Ito, Masatoshi, Sugiyama, Taketoshi, Okuno, Takehiko
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
Aplastic Anemia
Biological and medical sciences
Cell Cycle Proteins - genetics
Child
Chromosomes, Human, X
Diseases of red blood cells
DNA, Complementary - chemistry
Dyskeratosis Congenita
Dyskeratosis Congenita - genetics
Dyskerin
Genetic Linkage
Hematologic and hematopoietic diseases
Humans
Male
Medical sciences
Mutation
Mutation, Missense
Nuclear Proteins - genetics
Polymorphism, Restriction Fragment Length
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Summary: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.
ISSN:0888-0018
1521-0669
DOI:10.1080/08880010290097170