Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene

• Main Authors: Nengqing Liu (Author), Xiaojun Wen (Author), Zhanhui Ou (Author), Xiaowu Fang (Author), Jing Du (Author), Xiufeng Lin (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

X-Linked Alport Syndrome (XLAS) is an X-linked, dominant, hereditary nephropathy mainly caused by mutations in the COL4A5 gene, found on chromosome Xq22. In this study, we reported a pedigree with XLAS caused by a COL4A5 mutation. This family gave birth to a boy with XLAS who developed hematuria and...