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

APA

Meij, I. C., Saar, K., van den Heuvel, L. P., Nuernberg, G., Vollmer, M., Hildebrandt, F., ... Knoers, N. V. (1999). Hereditary isolated renal magnesium loss maps to chromosome 11q23. American Journal of Human Genetics, 64(1), 180-188. https://doi.org/10.1086/302199

Author

Meij, I C ; Saar, K ; van den Heuvel, L P ; Nuernberg, G ; Vollmer, M ; Hildebrandt, F ; Reis, A ; Monnens, L A ; Knoers, N V. / Hereditary isolated renal magnesium loss maps to chromosome 11q23. In: American Journal of Human Genetics. 1999 ; Vol. 64, No. 1. pp. 180-188.

Harvard

Meij, IC, Saar, K, van den Heuvel, LP, Nuernberg, G, Vollmer, M, Hildebrandt, F, Reis, A, Monnens, LA & Knoers, NV 1999, 'Hereditary isolated renal magnesium loss maps to chromosome 11q23' American Journal of Human Genetics, vol. 64, no. 1, pp. 180-188. https://doi.org/10.1086/302199

Standard

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.

In: American Journal of Human Genetics, Vol. 64, No. 1, 01.1999, p. 180-188.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Meij IC, Saar K, van den Heuvel LP, Nuernberg G, Vollmer M, Hildebrandt F et al. Hereditary isolated renal magnesium loss maps to chromosome 11q23. American Journal of Human Genetics. 1999 Jan;64(1):180-188. https://doi.org/10.1086/302199


BibTeX

@article{49386ee9868e4fb1bb1cdfd2f96a01f5,
title = "Hereditary isolated renal magnesium loss maps to chromosome 11q23",
abstract = "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.",
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",
author = "Meij, {I C} and K Saar and {van den Heuvel}, {L P} and G Nuernberg and M Vollmer and F Hildebrandt and A Reis and Monnens, {L A} and Knoers, {N V}",
year = "1999",
month = "1",
doi = "10.1086/302199",
language = "English",
volume = "64",
pages = "180--188",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "CELL PRESS",
number = "1",

}

RIS

TY - JOUR

T1 - Hereditary isolated renal magnesium loss maps to chromosome 11q23

AU - Meij, I C

AU - Saar, K

AU - van den Heuvel, L P

AU - Nuernberg, G

AU - Vollmer, M

AU - Hildebrandt, F

AU - Reis, A

AU - Monnens, L A

AU - Knoers, N V

PY - 1999/1

Y1 - 1999/1

N2 - 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.

AB - 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.

KW - Adolescent

KW - Calcium/urine

KW - Child

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 11

KW - Databases, Factual

KW - Female

KW - Humans

KW - Kidney/metabolism

KW - Lod Score

KW - Magnesium/blood

KW - Magnesium Deficiency/blood

KW - Male

KW - Metal Metabolism, Inborn Errors/genetics

KW - Pedigree

U2 - 10.1086/302199

DO - 10.1086/302199

M3 - Article

VL - 64

SP - 180

EP - 188

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -

ID: 92786385