本研究报道一例由新型COL4A4杂合错义突变（c.913G>C，p.Gly305Arg）引发的常染色体显性Alport综合征（ADAS），通过肾活检（GBM广泛变薄）和基因测序（NGS技术）明确诊断，解决了ADAS因缺乏典型肾外表现（如SNHL）导致的误诊难题。该发现拓展了COL4A4突变谱，强调遗传 ...

本研究针对台湾地区高发的慢性肾病(CKD)和终末期肾病(ESKD)，采用全外显子测序(WES)技术对500例台湾人群进行基因分析，发现PKD1、COL4A4等已知肾病基因的罕见变异，并鉴定出PEX1、GANAB等新候选基因。通过多基因风险评分(PGS)证实遗传风险对肾功能(eGFR)的预测价值 ...

301050 (X-linked form), 203780 (autosomal recessive form), and 104200 (autosomal dominant form). Direct sequencing of genomic exonic DNA, including flanking intronic sequences. Reverse transcriptase ...

Alport syndrome is a progressive hereditary kidney disease with no definitive therapy. It is caused by mutations in any of the collagen IV genes (COL4A3, COL4A4, and COL4A5). Researchers in Japan, ...

Alport syndrome is a condition that develops due to mutations in three different genes – COL4A3, COL4A4 and COL4A5. The reason that the syndrome has a significant impact on the kidneys is because all ...

Alport syndrome (AS) is a hereditary type IV collagen disease that leads to progressive proteinuria, renal fibrosis, and kidney failure. Depending on the mutated gene and the pattern of inheritance, ...