PDF(Pubmed)
Abstract：
Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in COL4A3, COL4A4, and COL4A5 genes. The phenotypes can range from isolated hematuria with a non-progressive or very slowly progressive course to progressive kidney disease with extrarenal abnormalities. Timely diagnosis of Alport syndrome facilitates the early and effective implementation of treatment, as well as genetic counseling. Here, we report the COL4A3 c.765G > A, p.((=)) mutation in three ethnically Azerbaijani, apparently unrelated, consanguineous families from the village of Algeti in the Marneuli region of Georgia. We speculate that this variant could represent a founder mutation within this population and recommend offering genetic testing to Algeti village residents with persistent hematuria.
摘要：
Alport综合征是一种罕见的遗传性疾病，以肾脏疾病为特征，听力障碍,和眼部异常。它表现出涉及COL4A3、COL4A4和COL4A5基因的致病变异的各种遗传模式。表型可以从具有非进行性或非常缓慢的进行性病程的孤立性血尿到具有肾外异常的进行性肾脏疾病。及时诊断Alport综合征有利于早期有效地实施治疗,以及遗传咨询。这里,我们报告了COL4A3c.765G>A，p。（（=））三个阿塞拜疆族的突变，显然无关，来自佐治亚州Marneuli地区Algeti村的近亲家庭。我们推测该变异可能代表该人群中的创始人突变，并建议向患有持续性血尿的Algeti村居民提供基因检测。
