Department of Nephrology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.
Key Laboratory of Experimental Teratology, Ministry of Education, Department of Genetics, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.
Biomed Res Int. 2020 Nov 11;2020:1626378. doi: 10.1155/2020/1626378. eCollection 2020.
Alport syndrome (AS) is a hereditary nephropathy which is characterized by molecular abnormalities in collagen IV. Here, we report compound mutations of the COL4A3 gene including a novel allele identified in a patient with Alport syndrome. The patient was a 25-year-old Chinese woman. She has a history of proteinuria and hematuria with cleft lip and palate. The pathologic results were consistent with Alport syndrome. The patient received ACEI treatment but did not respond well to the treatment. Sequencing results revealed that the patient carried two heterozygous mutations in the COL4A3 gene, including a known mutation (c.4243G>C, p.G1415R), which was inherited from her father, and a previously undescribed allele (c.4216G>A, p.G1406R) inherited from her mother. To date, at least 294 different variants of COL4A3 have been reported according to the Human Gene Mutation Database (HGMD). Identification of c.4216G>A as a new AS-related mutation may contribute to both genetic diagnosis of AS and further functional study of COL4A3.
Alport 综合征（AS）是一种遗传性肾病，其特征是 IV 型胶原分子异常。在这里，我们报告了 COL4A3 基因的复合突变，包括在一位 Alport 综合征患者中鉴定出的一个新等位基因。患者为 25 岁中国女性，有蛋白尿和血尿伴唇腭裂病史。病理结果符合 Alport 综合征。患者接受 ACEI 治疗，但治疗反应不佳。测序结果显示患者携带 COL4A3 基因的两个杂合突变，包括一个已知的突变（c.4243G>C，p.G1415R），该突变来自她的父亲，以及一个来自她母亲的先前未描述的等位基因（c.4216G>A，p.G1406R）。截至目前，根据人类基因突变数据库（HGMD）至少已报道了 294 种不同的 COL4A3 变异体。鉴定出 c.4216G>A 为新的 AS 相关突变，可能有助于 AS 的遗传诊断和 COL4A3 的进一步功能研究。
