Journal article
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
Nature genetics, Vol.31(2), pp.171-174
06/2002
DOI: 10.1038/ng901
PMID: 12032570
Abstract
Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium. Life-long magnesium supplementation is required to overcome the defect in magnesium handling by these individuals. We previously mapped the gene locus to chromosome 9q in three large inbred kindreds from Israel. Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion.
Details
- Title: Subtitle
- Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
- Creators
- Hanna Shalev - Department of Pediatrics, Ben Gurion UniversityPeter Meyer - Institute of Human Genetics, University of HeidelbergMaria Tsolia - Department of Pediatrics, P. & A. Kyriakou Children's Hospital, University of AthensZvi Borochowitz - Simon Winter Institute for Human Genetics, Bnai-Zion Medical CenterRivka Carmi - Department of Pediatrics, Ben Gurion UniversityDaniel Landau - Department of Pediatrics, Ben Gurion UniversityGretel E Beck - Department of Pediatrics and Howard Hughes Medical Institute, University of IowaVal C Sheffield - Department of Pediatrics and Howard Hughes Medical Institute, University of IowaRoxanne Y Walder - Department of Pediatrics and Howard Hughes Medical Institute, University of IowaRichard K Englehardt - Department of Pediatrics and Howard Hughes Medical Institute, University of IowaMelanie Barbara Boettger - Institute of Human Genetics, University of Heidelberg
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.31(2), pp.171-174
- DOI
- 10.1038/ng901
- PMID
- 12032570
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 06/2002
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065385302771
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