Objective To analyze the genetic characteristics of a hereditary renal hypomagnesemia case in children caused by CNNM2 mutation,discuss the clinical manifestations,diagnosis,differential diagnosis,genetic testing results and treatment efficacy.Methods The clinical data of children with confirmed hereditary renal hypomagnesemia were collected,including medical history,signs,physical examinations,etc.,and the hereditary characteristics and treatment process were analyzed.Results The presented symptoms include headache and dizziness,numbness and weakness in the limbs and hypo-phrenia.Exome sequencing was conducted and revealed that the patient is a heterozygotic carrier of a novel CNNM2 genetic variant(c.806C＞T;p.S269L).Potassium and magnesium aspartate tablets were prescribed followed by dose adjustment in the next a half year.Conclusion The clinical manifestations and genetic results of the child confirmed hereditary renal hypomag-nesemia,and the locus found in this case was an unreported de novo pathogenic variant,which amplified the variant profile of CNNM2 gene.Magnesium supplementation therapy has no significant efficacy in hypomagnesaemia associated with CNNM2 variants.
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