尿素循环
高氨血症
外显子
医学遗传学
介绍(产科)
氨甲酰磷酸合成酶
突变
分子遗传学
遗传学
生物
医学
基因
内科学
外科
氨基酸
精氨酸
作者
Keiji Kurokawa,Tohru Yorifuji,Masahiko Kawai,Toru Momoi,Hironori Nagasaka,Masaki Takayanagi,Keiko Kobayashi,Makoto Yoshino,Tomoki Kosho,Masanori Adachi,Harumi Otsuka,Shozo Yamamoto,Toshiaki Murata,Akihito Suenaga,Tsutomu Ishi‐i,Kihei Terada,Naoto Shimura,Kohji Kiwaki,Haruo Shintaku,Masaru Yamakawa,Hiroki Nakabayashi,Yosuke Wakutani,Tatsutoshi Nakahata
标识
DOI:10.1007/s10038-007-0122-9
摘要
Carbamoylphosphate synthetase I deficiency (CPS1D) is a urea-cycle disorder characterized by episodes of life-threatening hyperammonemia. Correct diagnosis is crucial for patient management, but is difficult to make from clinical presentation and conventional laboratory tests alone. Enzymatic or genetic diagnoses have also been hampered by difficult access to the appropriate organ and the large size of the gene (38 exons). In this study, in order to address this diagnostic dilemma, we performed the largest mutational and clinical analyses of this disorder to date in Japan. Mutations in CPS1 were identified in 16 of 18 patients with a clinical diagnosis of CPS1D. In total, 25 different mutations were identified, of which 19 were novel. Interestingly, in contrast to previous reports suggesting an extremely diverse mutational spectrum, 31.8% of the mutations identified in Japanese were common to more than one family. We also identified two common polymorphisms that might be useful for simple linkage analysis in prenatal diagnosis. The accumulated clinical data will also help to reveal the clinical presentation of this rare disorder in Japan.
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