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目的 探讨汉族家族性中枢神经系统海绵状血管瘤 (FCCM)的遗传学特征和相关基因新突变。方法 对临床收治的 1例FCCM家族成员进行磁共振 (MRI)影像学和神经系统检查 ,同时利用DNA直接测序法检测外周血标本中的CCM1基因突变。结果 该家族成员共 2 1人 ,已死亡 3例 ,在存活者中有 16人 ( 89% )参加了调查。MRI检查发现患者共 11例 ,外显率为 6 9%。其中多发病灶 7例、单发病灶 4例 ,发病最小年龄为 4岁 ,有不同程度的临床表现 ,未患病者 5人。先证者及其他患病者CCM1基因第 13号外显子的核苷酸序列第 38和 39位点 (即在起始密码子以后的第 6 71和 6 72 )发生缺失移码突变 6 71delAT ,导致该基因编码KRIT1蛋白时出现错误 ,而在家系内未患病者和对照组中均未检测到上述突变。结论 6 71delAT为一新发现的可以遗传的CCM1基因突变
Objective To investigate the genetic characteristics of cavernous hemangiomas (FCCMs) of the familial central nervous system in Han nationality and new mutations of related genes. Methods One case of FCCM family member who underwent clinical treatment was examined by MRI and neurological examination. The CCM1 gene mutation in peripheral blood samples was detected by DNA direct sequencing. Results A total of 21 members of this family, 3 died, and 16 (89%) survivors participated in the survey. MRI examination found a total of 11 patients, penetrance was 69%. Among them, there were 7 cases of multiple lesions and 4 cases of single lesions. The minimum age of onset was 4 years old. There were different clinical manifestations and 5 cases were not affected. Prokaryotic and other diseased CCM1 gene No. 13 exon nucleotide sequence 38 and 39 sites (ie after the start codon 6 71 and 6 72 ) resulted in a deletion of the frameshift mutation 6 71delAT, resulting in an error in the gene encoding KRIT1 protein, whereas none of the above mutations were detected in neither the non-affected nor the pedigree in the pedigree. Conclusion 6 71delAT is a newly discovered inheritable CCM1 gene mutation