Journal of Developmental Medicine(Electronic Version)  2015, Vol. 3 Issue (3): 139-144 DOI: |
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| 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
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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) |
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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
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Received: 11 March 2015
Published: 14 May 2018
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