Liu Xiaowei, Gao Ming, Zou Yang, Wang Lijuan, Kang Ranran, Xu Peiwen, Niu Yuping, Huang Sexin, Li Jie, Xie Hongqiang, Gao Yuan
Center for Reproductive Medicine, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Key Laboratory for Reproductive Endocrinology of the Ministry of Education, Shandong University, Jinan, Shandong 250001, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):807-810. doi: 10.3760/cma.j.issn.1003-9406.2020.08.001.
To explore the genetic basis for a pedigree affected with Alport syndrome.
Next generation sequencing and Sanger sequencing was carried out to detect potential variant of the COL4A5 gene among members from the pedigree and 100 unrelated healthy controls.
A novel missense c.3293G>T (p.Gly1098Val) variant was found in the COL4A5 gene among 6 affected members but not the unaffected members of the pedigree or the 100 healthy controls. According to the American College of Medical Genetics and Genomics standards and guidelines, the c.3293G>T variant was classified as pathogenic (PP1-strong+PM1+PM2+PP3+PP4).
By destructing the Gly-X-Y structure of its protein product, the c.3293G>T variant of the COL4A5 gene probably underlies the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COL4A5 variants.
探究一个患有奥尔波特综合征家系的遗传基础。
对该家系成员及100名无关健康对照者进行二代测序和桑格测序，以检测COL4A5基因的潜在变异。
在该家系的6名患病成员中发现了COL4A5基因的一个新的错义变异c.3293G>T（p.Gly1098Val），而家系中的未患病成员及100名健康对照者中未发现该变异。根据美国医学遗传学与基因组学学会的标准和指南，c.3293G>T变异被分类为致病性变异（PP1-强+PM1+PM2+PP3+PP4）。
COL4A5基因的c.3293G>T变异可能通过破坏其蛋白质产物的甘氨酸-X-酪氨酸结构，成为该家系奥尔波特综合征的潜在病因。上述发现丰富了COL4A5变异谱。
