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

研究成果: Article査読

抄録

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.

本文言語English
論文番号30
ジャーナルHuman Genome Variation
9
1
DOI
出版ステータスPublished - 12-2022

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学
  • 遺伝学

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