文章摘要
杨琼 ，刘海英 ，郭金竹 ，刘琦 ，窦万臣.一例家族性颅内海绵状血管瘤基因新突变位点报道及文献复习[J].神经损伤功能重建,2020,15(9):497-500
一例家族性颅内海绵状血管瘤基因新突变位点报道及文献复习
Case Report of Familial Cerebral Cavernous Hemangioma with New Mutation Site andLiterature Review
  
DOI：
中文关键词: 家族性颅内海绵状血管瘤  CCM1/KRIT1基因  全外显子组测序技术
英文关键词: familial cerebral cavernous hemangioma  CCM1/KRIT1 gene  whole genome sequencing
基金项目:中国医学科学院医 学与健康科技创新 工程项目（No. 201 6-I2M-1-004）
作者单位
杨琼1* ，刘海英2* ，郭金竹3 ，刘琦3 ，窦万臣3 1. 中国医科大学航 空总医院神经内科 2. 山东潍坊市市立 医院护理部 3. 中国医学科学院 北京协和医院神经 外科 
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中文摘要:
      目的：对一例家族性颅内海绵状血管瘤（FCCM）家系进行临床诊断、治疗及遗传学分析，并复习相关 文献。方法：对先证者及其亲属收集临床资料及应用全外显子组测序（WES）技术进行基因分析。结果：先 证者及其大儿子临床诊断为 FCCM，且先证者合并皮肤血管畸形，其 CCM1/KRIT1 基因均发现 c.1307_ 1308insT的杂合核苷酸变异，该变异导致从第436号氨基酸亮氨酸（Leu）开始的氨基酸合成发生改变，并在 改变后的第6个氨基酸终止（p.Leu436PhefsTer6），为移码变异。其他无症状的家族成员，均未见该基因突 变。该位点突变在之前未见报道。先证者为双侧颞叶海绵状血管瘤，治疗相对困难，经两次手术后疗效欠 佳，仍需密切随访。结论：FCCM患者CCM1/KRIT1基因有新的突变位点；先证者临床表现除顽固性癫痫 发作外，合并CCM1基因突变导致的皮肤血管畸形；先证者表现为多发海绵状血管瘤（CCMs），双侧颞叶为 可疑致痫灶，经两次手术治疗后效果欠佳。
英文摘要:
      A case of familial cerebral cavernous hemangioma (FCCM) was clinically diagnosed, treated, and genetically analyzed, and relevant literature was reviewed. Methods: The clinical data of the index patient and her relatives were analyzed, and their DNA was sequenced by whole exome sequencing (WES). Results: The index patient and her elder son were clinically diagnosed with FCCM, and the proband had skin vascular malformations. They both carried the c.1307_1308insT heterozygous mutation of the CCM1/KRIT1 gene, which resulted in a frameshift mutation starting from amino acid leucine (Leu) no. 436 and terminating at the sixth amino acid (p.Leu436PhefsTer6). Other asymptomatic family members did not have this mutation. This mutation had not been previously reported. The index patient had bilateral cavernous hemangiomas of the temporal lobe which were difficult to treat. Two surgeries were performed yielding subpar results, and close clinical follow-up was still needed. Conclusion: A new mutation site of CCM1/KRIT1 was discovered in the FCCM patients. In addition to intractable epileptic seizures, the proband presented skin vascular malformations caused by the CCM1 gene mutation. The proband had multiple cavernous hemangioma (CCMs) and suspected epileptogenic foci located in the bilateral temporal lobes; two surgical treatments were performed but were ineffective.
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