Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia

• Main Authors: Jiayu Song (Author), Juan Lei (Author), Jianxia Zhang (Author), Aiqing Zhang (Author), Weihua Gan (Author), Bixia Zheng (Author), Chunli Wang (Author), Jing Gong (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ObjectivePrimary hypomagnesemia with secondary hypocalcemia (HSH) is caused by loss-of-function mutations in the TRPM6 gene encoding the epithelial magnesium channel. It is characterized by hypomagnesemia and secondary hypocalcemia associated with neurological symptoms. Here, we aimed to investigate...