Publication

Hereditary isolated renal magnesium loss maps to chromosome 11q23

Meij, I. C., Saar, K., van den Heuvel, L. P., Nuernberg, G., Vollmer, M., Hildebrandt, F., Reis, A., Monnens, L. A. & Knoers, N. V., Jan-1999, In : American Journal of Human Genetics. 64, 1, p. 180-188 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • I C Meij
  • K Saar
  • L P van den Heuvel
  • G Nuernberg
  • M Vollmer
  • F Hildebrandt
  • A Reis
  • L A Monnens
  • N V Knoers

Hypomagnesemia due to isolated renal magnesium loss has previously been demonstrated in two presumably unrelated Dutch families with autosomal dominant mode of inheritance. Patients with magnesium deficiency may suffer from tetany and convulsions, but the patients with hereditary renal magnesium wasting can also be clinically nonsymptomatic. In a genomewide linkage study, we first excluded a possible candidate region, on chromosome 9q, that encompasses the gene for intestinal hypomagnesemia with secondary hypocalcemia and, subsequently, found linkage to markers on chromosome 11q23. Detailed haplotype analyses identified a common haplotype segregating in both families, suggesting both their relationship through a common ancestor and the existence of a single, hypomagnesemia-causing mutation within them. The maximum two-point LOD score (Zmax) was found for marker D11S4127 (Zmax=6.41 at a recombination fraction of. 00), whereas a multipoint analysis gave a Zmax of 8.24 between markers D11S4142 and D11S4171. Key recombination events define a 5. 6-cM region between these two markers on chromosome 11q23. We conclude that this region encompasses a gene, involved in renal magnesium handling, that is mutated in our patients and is different from the gene involved in intestinal magnesium handling.

Original languageEnglish
Pages (from-to)180-188
Number of pages9
JournalAmerican Journal of Human Genetics
Volume64
Issue number1
Publication statusPublished - Jan-1999
Externally publishedYes

    Keywords

  • Adolescent, Calcium/urine, Child, Chromosome Mapping, Chromosomes, Human, Pair 11, Databases, Factual, Female, Humans, Kidney/metabolism, Lod Score, Magnesium/blood, Magnesium Deficiency/blood, Male, Metal Metabolism, Inborn Errors/genetics, Pedigree

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