Chen Lan, Zhang Yiyan, Lin Weisheng
Zhongshan Affiliated Hospital of Xiamen University, Xiamen, Fujian 361004, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):947-950. doi: 10.3760/cma.j.cn511374-20200713-00510.
To explore the genetic basis for a pedigree affected with Alport syndrome.
Next generation sequencing and Sanger sequencing was applied to detect potential variants of the COL4A3, COL4A4 and COL4A5 genes among members from the pedigree and 100 unrelated healthy controls.
The proband and his twin brother were found to carry two novel variants, namely c.4953G>A and c.4623C>A, of the COL4A4 gene, which were respectively inherited from her father and mother. The same variants were not detected among the 100 healthy controls and medical literature. Based on the guidelines of the American College of Medical Genetics and Genomics, both the c.4953G>A and c.4623C>A variants were predicted to be pathogenic (PVS1+PM2_supporting+PP1).
The c.4953G>A and c.4623C>A variants of the COLA4A gene probably underlay the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COLA4A gene variants.
探究一个患有奥尔波特综合征家系的遗传基础。
应用二代测序和桑格测序检测该家系成员及100名无关健康对照中COL4A3、COL4A4和COL4A5基因的潜在变异。
先证者及其双胞胎兄弟被发现携带COL4A4基因的两个新变异，即c.4953G>A和c.4623C>A，分别遗传自其父亲和母亲。在100名健康对照和医学文献中未检测到相同变异。根据美国医学遗传学与基因组学学会的指南，c.4953G>A和c.4623C>A变异均被预测为致病性变异（PVS1+PM2_supporting+PP1）。
COL4A4基因的c.4953G>A和c.4623C>A变异可能是该家系奥尔波特综合征的病因。上述发现丰富了COL4A4基因变异谱。
