Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency

• Main Authors: Yao Zhou (Author), Xinxing Jiang (Author), Yongfang Zhang (Author), Yu Zhang (Author), Fei Sun (Author), Yanlin Ma (Author)
• Format: Book
• Published: BMC, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Ornithine carbamoyltransferase deficiency (OTCD) is a kind of X-linked metabolic disease caused by a deficiency in ornithine transcarbamylase leading to urea cycle disorders. The main reason is that the OTC gene variants lead to the loss or decrease of OTC enzyme function, which...