A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report,Human Genome Variation

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A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
Human Genome Variation ( IF 1.0 ) Pub Date : 2022-08-31 , DOI: 10.1038/s41439-022-00209-6
Naonori Kumagai ₁ , Yuji Matsumoto ₁ , Tomomi Kondoh ₁ , Yohei Ikezumi ₁

Affiliation

Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-year-old children. He carried a novel variant, NM_033380.3:c. 1032 + 1 G > A, which caused a splicing abnormality in COL4A5. He was diagnosed with X-linked Alport syndrome.

中文翻译：

一种导致 X 连锁 Alport 综合征的新型 COL4A5 剪接变体：病例报告

Alport 综合征是一种遗传性疾病，其特征是肾功能损害、听力丧失和眼部症状，由COL4A3、COL4A4和COL4A5突变引起。在这里，我们报告了一名 3 岁男孩在对 3 岁儿童进行的常规预防性尿液筛查中发现孤立性血尿的病例。他携带了一个新变种，NM_033380.3:c。1032 + 1 G > A，导致COL4A5剪接异常。他被诊断出患有 X 连锁阿尔波特综合征。

更新日期：2022-08-31

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