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

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

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...

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Bibliographic Details
Main Authors: Jiayu Song, Juan Lei, Jianxia Zhang, Aiqing Zhang, Weihua Gan, Bixia Zheng, Chunli Wang, Jing Gong
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Pediatrics
Subjects:
primary hypomagnesemia
secondary hypocalcemia
TRPM6 gene
variant
abnormal mRNA splicing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.834241/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.834241/full

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