一名患有迪尼斯-德拉斯综合征和幽门狭窄患者的WT1基因第9外显子的新型突变。
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis.
作者信息
Hu Min, Craig Jonathon, Howard Neville, Kan Alex, Chaitow Jeffrey, Little Dianne, Alexander Stephen I
机构信息
Centre for Kidney Research, Department of Nephrology, The Children's Hospital at Westmead, New South Wales, Australia.
出版信息
Pediatr Nephrol. 2004 Oct;19(10):1160-3. doi: 10.1007/s00467-004-1564-3. Epub 2004 Jul 28.
We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.
我们报告了1例WT1基因第9外显子的新突变（1214 A>G），该突变导致1名46,XY女性患者第405密码子处的氨基酸由组氨酸变为精氨酸。该患者患有先天性肥厚性幽门狭窄、男性假两性畸形、肾衰竭和威尔姆斯瘤，并于22个月龄时死亡。该患者表明，在进行明确的基因特征分析之前，诊断两性畸形患者存在困难。
Zotero 插件