一种新的COL4A5剪接变异导致x连锁Alport综合征:1例报告。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-08-31 DOI:10.1038/s41439-022-00209-6

Naonori Kumagai, Yuji Matsumoto, Tomomi Kondoh, Yohei Ikezumi

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引用次数: 0

摘要

Alport综合征是一种遗传性疾病，以肾损害、听力损失和眼部症状为特征，由COL4A3、COL4A4和COL4A5突变引起。在此，我们报告一例3岁男孩在常规预防性尿筛查中发现孤立血尿。他携带了一种新的变异，NM_033380.3:c。1032 + 1 G > A，导致COL4A5剪接异常。他被诊断出患有x连锁阿尔波特综合症。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report.

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A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report.

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks