The pedigree study of X-Linkage deletion mutation in a Chinese family with Alport syndrone
GAO Chun-lin, GAO Yuan-fu, XIA Zheng-kun, et al
GAO Chun-lin, GAO Yuan-fu, XIA Zheng-kun, FAN Zhong-min(Department of Pediatrics, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China)
Abstract: Objective To investigate the clinical and genetic diagnosis of a Chinese family with hematuria, which displayed sex-linked hereditary, so that we can find the virulence gene and sites. Method We analyzed the clinical manifestation and the renal pathology of the index patient, the type Ⅳ collagen in the nephridial tissue and skin by immunofluorescence, and detected the COL4A5 gene by the next sequence method. Results There were 7 patients in the family, they all showed gross hematuri, two of them had progressed to end-stage renal disease (ERDS), but none of them were involved in eye or ear damage.There was no special lesion of the glomcrulus;the GBM was normal with a normal thickness; by next sequencing we found a mutation of c.1365_1373del TCCAGGCCC (p.Pro456_ Pro458del3) in exon 21 of COL4A5.Conclusions The mutation, c.1365_1373del TCCAGGCCC in COL4A5 gene, was a novel deletion of COL4A5 up to now. There are many female patients in this family, antepartum gene diagnosis was necessary for them to avoid the disease reoccurring
高春林 高远赋 夏正坤 等. X连锁的缺失突变致Alport综合征的家系研究[J]. 发育医学电子杂志, 2015, 3(3): 139-144.
GAO Chun-lin, GAO Yuan-fu, XIA Zheng-kun, et al. The pedigree study of X-Linkage deletion mutation in a Chinese family with Alport syndrone. Journal of Developmental Medicine(Electronic Version), 2015, 3(3): 139-144.
2015, Vol. 3 
