Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene

• Main Authors: Yan Liu (Author), Wenchao Sheng (Author), Jinying Wu (Author), Jie Zheng (Author), Xiufang Zhi (Author), Shuyue Zhang (Author), Chunyu Gu (Author), Detong Guo (Author), Wenhong Wang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Proximal renal tubular acidosis (pRTA) with ocular abnormalities is an autosomal recessive disease caused by variants in the Solute Carrier Family 4 Member 4 (SLC4A4) gene. Patients present with metabolic acidosis and low plasma bicarbonate concentration (3∼17 mmol/L). In addition, they are often ac...