Frequency of de novo mutations in Japanese patients with Fabry disease.
Frequency of de novo mutations in Japanese patients with Fabry disease.
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DOI：
10.1016/j.ymgmr.2014.07.001
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发表时间：
2014
影响因子：
1.9
通讯作者：
Ida, Hiroyuki
中科院分区：
文献类型：
--
作者：
Kobayashi, Masahisa;Ohashi, Toya;Iizuka, Sayoko;Kaneshiro, Eiko;Higuchi, Takashi;Eto, Yoshikatsu;Ida, Hiroyuki
我们研究了74个日本法布里病（FD）家族的α-半乳糖苷酶A（GLA）基因突变，以确定从头突变的频率。在74个家系中，有5个家系（6.8%）的先证者无阳性家族史，因双亲无GLA基因突变而被诊断为新发。法布里病患者的父母不一定有GLA基因突变，这是FD遗传咨询的重要考虑因素。
We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of de novo mutations. In 5 of 74 families (6.8%), the probands had no positive family histories and were diagnosed as de novo because their parents had no mutations in GLA gene. The parents of Fabry patients do not necessarily have mutations in GLA gene which is an important consideration in genetic counseling for FD.