PDF(Pubmed)
Abstract：
BACKGROUND: Although cerebral aneurysm (CA) is a defining complication of COL4A1/2-related vasculopathy, the specific factors influencing its onset remain uncertain. This study aimed to identify and analyze these factors.
METHODS: We described a family presenting with a novel variant of the COL4A1 gene complicated with CA. Concurrently, an exhaustive review of previously documented patients with COL4A1/2-related vasculopathy was conducted by sourcing data from PubMed, Web of Science, Google Scholar, and Ichushi databases. We compared the variant types and locations between patients with CA (positive group) and those without CA (negative group).
RESULTS: This study included 53 COL4A1/2 variants from 76 patients. Except for one start codon variant, all the identified variants in CA were missense variants. Otherwise, CA was not associated with other clinical manifestations, such as small-vessel disease or other large-vessel abnormalities. A higher frequency of missense variants (95.5% vs. 58.1%, p = 0.0035) was identified in the CA-positive group.
CONCLUSIONS: CA development appears to necessitate qualitative alterations in COL4A1/2, and the underlying mechanism seems independent of small-vessel disease or other large-vessel anomalies. Our findings suggest that a meticulous evaluation of CA is necessary when missense variants in COL4A1/2 are identified.
METHODS: We described a family presenting with a novel variant of the COL4A1 gene complicated with CA. Concurrently, an exhaustive review of previously documented patients with COL4A1/2-related vasculopathy was conducted by sourcing data from PubMed, Web of Science, Google Scholar, and Ichushi databases. We compared the variant types and locations between patients with CA (positive group) and those without CA (negative group).
RESULTS: This study included 53 COL4A1/2 variants from 76 patients. Except for one start codon variant, all the identified variants in CA were missense variants. Otherwise, CA was not associated with other clinical manifestations, such as small-vessel disease or other large-vessel abnormalities. A higher frequency of missense variants (95.5% vs. 58.1%, p = 0.0035) was identified in the CA-positive group.
CONCLUSIONS: CA development appears to necessitate qualitative alterations in COL4A1/2, and the underlying mechanism seems independent of small-vessel disease or other large-vessel anomalies. Our findings suggest that a meticulous evaluation of CA is necessary when missense variants in COL4A1/2 are identified.
摘要：
背景：尽管脑动脉瘤（CA）是COL4A1/2相关血管病变的决定性并发症，影响其发病的具体因素仍不确定。本研究旨在识别和分析这些因素。
方法：我们描述了一个出现COL4A1基因新变异并伴有CA的家族。同时,通过从PubMed获取数据，对先前记录的COL4A1/2相关血管病变患者进行了详尽审查，WebofScience,谷歌学者，和Ichushi数据库。我们比较了CA患者（阳性组）和无CA患者（阴性组）之间的变异类型和位置。
结果：本研究包括76例患者的53种COL4A1/2变异。除了一个起始密码子变体,CA中所有鉴定出的变异体均为错义变异体.否则,CA与其他临床表现无关，如小血管疾病或其他大血管异常。错义变异的频率更高(95.5%vs.58.1%,p=0.0035）在CA阳性组中鉴定。
结论：CA的发展似乎需要COL4A1/2的定性改变，其潜在机制似乎与小血管疾病或其他大血管异常无关。我们的发现表明，当识别出COL4A1/2中的错义变体时，需要对CA进行细致的评估。
方法：我们描述了一个出现COL4A1基因新变异并伴有CA的家族。同时,通过从PubMed获取数据，对先前记录的COL4A1/2相关血管病变患者进行了详尽审查，WebofScience,谷歌学者，和Ichushi数据库。我们比较了CA患者（阳性组）和无CA患者（阴性组）之间的变异类型和位置。
结果：本研究包括76例患者的53种COL4A1/2变异。除了一个起始密码子变体,CA中所有鉴定出的变异体均为错义变异体.否则,CA与其他临床表现无关，如小血管疾病或其他大血管异常。错义变异的频率更高(95.5%vs.58.1%,p=0.0035）在CA阳性组中鉴定。
结论：CA的发展似乎需要COL4A1/2的定性改变，其潜在机制似乎与小血管疾病或其他大血管异常无关。我们的发现表明，当识别出COL4A1/2中的错义变体时，需要对CA进行细致的评估。
