Kraemer Doris M, Goebeler Matthias
Medizinische Poliklinik, Klinikstr. 8, 97070 Würzburg, Germany.
Haematologica. 2003 Apr;88(4):ECR11.
We report the case of a 40-year-old male patient with dyskeratosis congenita(DKC). Sequencing of the DKC1 gene revealed an inherited missense mutation in base 1050 (GC), changing methionine to isoleucine. This is the third description of a mutation in codon 350 (exon 11), changing a very well conserved amino acid in the pseudouridine synthase (PUA) domain of dyskerin.
我们报告了一例患有先天性角化不良（DKC）的40岁男性患者的病例。对DKC1基因进行测序发现，第1050位碱基（GC）存在遗传性错义突变，导致甲硫氨酸变为异亮氨酸。这是对第350密码子（第11外显子）突变的第三次描述，该突变改变了角化蛋白假尿苷合酶（PUA）结构域中一个高度保守的氨基酸。
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