[一名青少年12型青少年成年起病型糖尿病的基因分析]
[Genetic analysis of a juvenile with maturity-onset diabetes of the young type 12].
作者信息
Luo Yue, Jin Jiahui, Li Liyi, Wu Huiping, Shan Xiaoou
机构信息
Department of Pediatric Endocrinology, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):891-894. doi: 10.3760/cma.j.cn511374-20200626-00476.
OBJECTIVE
To explore the genetic basis for a juvenile with maturity-onset diabetes of the young type 12(MODY12).
METHODS
High-throughput sequencing was carried out to screen for the variants. Candidate variant was verified by Sanger sequencing. Pathogenity of the variant was predicted by searching the genetic databases and analysis by using bioinformatic software.
RESULTS
Genetic testing indicated that the patient and his mother have both carried a heterozygous c.3976G>A variant (p.Glu1326Lys) in exon 32 of the ABCC8 gene. Prediction of the protein structure suggested the variant to be deleterious. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be uncertain significance.
CONCLUSION
Whether the c.3976G>A variant of the ABCC8 gene is the cause of the disease in this patient or not depends on the functional studies and more case data. Above finding has enriched the spectrum of ABCC8 gene variants.
目的
探究一名患有青少年成年起病型糖尿病12型（MODY12）的青少年的遗传基础。
方法
进行高通量测序以筛选变异。候选变异通过桑格测序进行验证。通过搜索遗传数据库并使用生物信息学软件进行分析来预测变异的致病性。
结果
基因检测表明该患者及其母亲在ABCC8基因第32外显子中均携带杂合的c.3976G>A变异（p.Glu1326Lys）。蛋白质结构预测表明该变异有害。根据美国医学遗传学与基因组学学会的指南，该变异被预测为意义不明确。
结论
ABCC8基因的c.3976G>A变异是否为此患者的致病原因取决于功能研究和更多病例数据。上述发现丰富了ABCC8基因变异谱。
Zotero 插件