biostudies-literatureUnknown9(5)Kuang X<h4>Background</h4>X-linked Alport syndrome (XLAS) is the most common form of Alport syndrome (AS), involves mutations in the <i>COL4A5</i> gene encoding the type IV collagen a5 chain. In this research, we will report the analysis of the <i>COL4A5</i> gene in a Chinese family with XLAS, and investigate the effect of the missense mutation of this family on type IV collagen.<h4>Methods</h4>Targeted sequencing using next-generation sequencing (NGS) was conducted for genes (COL4A3/4/5). Normal and mutation COL4A5 plasmids were constructed and then transfected into human podocytes, none plasmid and empty plasmid transfection as control. And then real-time PCR, western blot and indirect immunofluorescence were used to detect the COL4A1/3/5 mRNA, protein, and immunofluorescence expression of each group.<h4>Results</h4>In this study, we found an Alport family, and the whole exon sequencing found a new missense mutation c.1844G>C in exon 25. The results of real-time PCR, western blot and immunofluorescence showed that in the mutation group, both the mRNA and protein levels of COL4A5 were significantly reduced.<h4>Conclusions</h4>c.1844G>C is a functional variation of COL4A5, which might play a very important role in the occurrence and development of AS.Translational pediatrics587-595https://www.ebi.ac.uk/biostudies/studies/S-EPMC7658769biostudies-literatureA novel missense mutation of <i>COL4A5</i> gene alter collagen IV α5 chain to cause X-linked Alport syndrome in a Chinese family.PMC7658769Sun LHuang WKuang XWu YfalseA novel missense mutation of <i>COL4A5</i> gene alter collagen IV α5 chain to cause X-linked Alport syndrome in a Chinese family.<h4>Background</h4>X-linked Alport syndrome (XLAS) is the most common form of Alport syndrome (AS), involves mutations in the <i>COL4A5</i> gene encoding the type IV collagen a5 chain. In this research, we will report the analysis of the <i>COL4A5</i> gene in a Chinese family with XLAS, and investigate the effect of the missense mutation of this family on type IV collagen.<h4>Methods</h4>Targeted sequencing using next-generation sequencing (NGS) was conducted for genes (COL4A3/4/5). Normal and mutation COL4A5 plasmids were constructed and then transfected into human podocytes, none plasmid and empty plasmid transfection as control. And then real-time PCR, western blot and indirect immunofluorescence were used to detect the COL4A1/3/5 mRNA, protein, and immunofluorescence expression of each group.<h4>Results</h4>In this study, we found an Alport family, and the whole exon sequencing found a new missense mutation c.1844G>C in exon 25. The results of real-time PCR, western blot and immunofluorescence showed that in the mutation group, both the mRNA and protein levels of COL4A5 were significantly reduced.<h4>Conclusions</h4>c.1844G>C is a functional variation of COL4A5, which might play a very important role in the occurrence and development of AS.2020-01-01T00:00:00Z2020 Oct2025-04-19T23:42:03.269Z2025-04-19T23:42:03.269ZS-EPMC76587693320972010.21037/tp-20-47