伴有NOTCH3基因第7外显子新突变（C388Y）的大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）
CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y).
作者信息
Ishida Chiho, Sakajiri Ken-ichi, Yoshita Mitsuhiro, Joutel Anne, Cave-Riant Florence, Yamada Masahito
机构信息
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa.
出版信息
Intern Med. 2006;45(16):981-5. doi: 10.2169/internalmedicine.45.1692. Epub 2006 Sep 15.
We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient.
我们报告了一名38岁的日本女性，她患有伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL），其Notch3基因（NOTCH3）第7外显子核苷酸位置1241处（C388Y）存在一个新的突变（TGT突变为TAT）。用Notch3单克隆抗体对皮肤活检组织进行免疫染色是筛查CADASIL的一种有效方法，特别是在像该患者这样NOTCH3突变热点区域以外存在罕见突变的情况下。
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