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Alport syndrome

[Study of a family affected with focal segmental glomerulosclerosis due to mutation of COL4A5 gene].
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[Study of a family affected with focal segmental glomerulosclerosis due to mutation of COL4A5 gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):373-376

Authors: Zhang J, Yang J, Hu Z

Abstract
OBJECTIVE: To analyze the clinicopathologic features and genetic mutation in a patient diagnosed with focal segmental glomerulosclerosis (FSGS).
METHODS: Clinicopathologic data of the patient, who was diagnosed with primary FSGS by renal biopsy, was collected. Mutations of FSGS-related genes were screened with next-generation sequencing. Suspected pathogenic mutation was verified with Sanger sequencing.
RESULTS: Next-generation sequencing detected a missense mutation (c.2215C to G, p.P739A) in exon 28 of the COL4A5 gene in the patient. The same mutation was also detected in his mother who was asymptomatic. Another missense mutation (c.2215C to T, p.P739S) in the same codon has been related with Alport syndrome.
CONCLUSION: The c.2215C to G (p.P739A) mutation may be one of pathogenic mutations underlying FSGS. This has provided further evidence for the phenotypic heterogeneity of COL4A5 gene mutations.

PMID: 28604958 [PubMed - in process]

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