Skip to main content
SpringerLink
Log in

Gene Mapping of Mineral Metabolic Disorders

  • Chapter
Studies in Inherited Metabolic Disease

  • 109 Accesses

Summary

Recent advances in the techniques of molecular biology and cytogenetics have enabled the localization of several mutant genes which result in disorders of phosphate, calcium, magnesium and water homeostasis. Thus, the genes causing X-linked hypophosphataemic rickets, Lowe’s syndrome, Di George syndrome, X-linked recessive hypoparathyroidism, multiple endocrine neoplasia Type I, primary hypomagnesaemia and X-linked nephrogenic diabetes insipidus have been mapped. The molecular and genetic studies which localized these disease genes are described and the implications of this gene mapping in genetic counselling and in further elucidation of the mineral metabolic defects are discussed.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Abbassi, V., Lowe. C. U. and Calcagno, P. L. Oculo-cerebro-renal syndrome. Am. J. Dis. Child. 115 (1968) 145–168

    PubMed  CAS  Google Scholar 

  • Ahn, T. G., Antonarakis, S. E., Kronenberg, H. M., Igarashi, T. and Levine, M. A. Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons. Medicine 65 (1986) 73–81

    Article  PubMed  CAS  Google Scholar 

  • Albright, F., Butler, A. M. and Bloomberg, E. Rickets resistant to vitamin D therapy. Am. J. Dis. Child. 54 (1937) 529–547

    Google Scholar 

  • Botstein, D., White, R. L., Skolnick, M. and Davis, R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32 (1980) 314–331

    PubMed  CAS  Google Scholar 

  • Brandi, M. L., Aurbach, G. D., Fitzpatrick, L. A., Quarto, R., Spiegel, A. M., Bliziotes, M. M., Norten, J. A., Doppman, J. L. and Marx, S. J. Parathyroid mitogenic activity in plasma from patients with familial multiple endocrine neoplasia type I. N. Engl. J. Med. 314 (1986) 1287–1293

    Article  PubMed  CAS  Google Scholar 

  • Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G. and Wedd, N. S. Chromosome maps of man and mouse II. Clin. Genet. 26 (1984) 1–11

    Article  PubMed  CAS  Google Scholar 

  • Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J. and Searle, A. G. Comparative maps of human and mouse X-chromosomes. Cytogenet. Cell Genet. 40 (1985) 594–595

    Google Scholar 

  • Burnett, C. H., Dent, C. E., Harper, C. and Warland, B. J. Vitamin D resistant rickets. Analysis of 24 pedigrees with hereditary and sporadic cases. Am. J. Med. 36 (1964) 222–232

    Article  PubMed  CAS  Google Scholar 

  • Cannizzaro, L. A. and Emanuel, B. S. In situ hybridization and translocation breakpoint mapping: II Di George syndrome with partial monosomy of chromosome 22. Cytogenet. Cell Genet. 39 (1985) 179–183

    Article  PubMed  CAS  Google Scholar 

  • Cavenee, W. K., Murphree, A. L., Shull, M. M., Benedict, W. F., Sparkes, R. S., Kock, E. and Nordenskjold, M. Prediction of familial predisposition to retinoblastoma. N. Engl. J. Med. 314 (1988) 1201–1207

    Article  Google Scholar 

  • Christensen, J. F. Three familial cases of atypical late rickets. Acta Paediatr. Scand. 28 (1941) 247–270

    Article  Google Scholar 

  • Davies, K. E., Pearson, P. L., Harper, P. S., Murray, J. M., O’Brien, T., Sarfarazi, M. and Williamson, R. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X-chromosome. Nucl. Acids Res. 11 (1983) 2303–2312

    Article  PubMed  CAS  Google Scholar 

  • Davies, K. E. Molecular genetics of the human X chromosome. J. Med. Genet. 22 (1985) 243–249

    Article  PubMed  CAS  Google Scholar 

  • Davies, K. E., Mandel, J. L., Weissenbach, J. and Fellous, M. Report of the committee on the genetic constitution of the X and Y chromosomes, Ninth International Workshop on Human Gene Mapping, Cytogenet. Cell Genet. 46 (1987) 277–315

    Article  PubMed  CAS  Google Scholar 

  • de la Chappelle, A., Herva, R., Koivisto, M. and Aula, P. A deletion in chromosome 22 can cause Di George syndrome. Hum. Genet. 57 (1981) 253–256

    Article  Google Scholar 

  • Eicher, E. M., Southard, J. L., Scriver, C. R. and Glorieux, F. H. Hypophosphataemia: Mouse model for human familial hypophosphataemic (vitamin D-resistant) rickets. Proc. Natl. Acad. Sci. USA 73 (1976) 4667–4671

    Article  PubMed  CAS  Google Scholar 

  • Fibison, W. J. and Emanuel, B. S. Molecular mapping in Di George syndrome. Am. J. Hum. Genet. 41 (1987) A119

    Google Scholar 

  • Gardner, R. J. M. and Brown, N. Lowe’s syndrome: Identification of carrier by lens examination. J. Med. Genet. 13 (1976) 449–454

    Article  PubMed  CAS  Google Scholar 

  • Gitelman, H. J., Graham, J. B. and Welt, L. G. A new familial disorder characterised by hypokalaemia and hypomagnesemia. Trans. Assoc. Am. Physicians 79 (1966) 221–235

    PubMed  CAS  Google Scholar 

  • Glorieux, F. H. and Scriver, C. R. Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphataemia. Science, 175 (1972) 997–1000

    Article  PubMed  CAS  Google Scholar 

  • Graham, J. B., McFalls, V. W. and Winters, R. W. Familial hypophosphataemia with vitamin D resistant rickets. II. Three additional kindreds of the sex-linked dominant type with a genetic analysis for four such families. Am. J. Hum. Genet, 11 (1959) 311–332

    CAS  Google Scholar 

  • Hodgson, S. V., Heckmatt, J. Z., Hughes, E., Crolla, J. A., Dubowitz, V. and Bobrow, M. A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am. J. Med. Genet. 23 (1986) 837–847

    Article  PubMed  CAS  Google Scholar 

  • Hoffman, E. P., Knudson, C. M., Campbell, K. P. and Kunkel, L. M. Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 330 (1987) 754–758

    Article  PubMed  CAS  Google Scholar 

  • Johnston, S. S. and Nevin, N. C. Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe. Birth Defects: Orig. Art. Ser. X11 (3) (1976) 569–577

    Google Scholar 

  • Kambouris, M., Dlouhy, S. R., Trofatter, J. A., Conneally, P. M. and Hodes, M. E. Localisation of the gene for X-linked nephrogenic diabetes insipidus to Xq28. Am. J. Med. Genet. 29 (1988) 239–246

    Article  CAS  Google Scholar 

  • Kelley, R. I., Zackai, E. H., Emmanuel, B. S., Kistenmacher, M., Greenberg, F. and Punnett, H. H. The association of the Di George anomalad with partial monosomy of chromosome 22. J. Pediatr. 101 (1982) 197–200

    Article  PubMed  CAS  Google Scholar 

  • Knoers, N., van den Heyden, H., van Oost, B., Monnens, L., Willems, J. and Ropers, H. Tight linkage between nephrogenic diabetes insipidus and DXS52. Cytogenet. Cell Genet. 46 (1987) 640

    Article  Google Scholar 

  • Knudson, A. G., Strong, L. C. and Anderson, D. E. Heredity and cancer in man. Progr. Med. Genet. 9 (1973) 113–158

    Google Scholar 

  • Kobrinsky, N. L., Doyle, J. J., Israels, E. D., Winter, J. S. D., Cheang, M. S., Walker, R. D. and Bishop, A. J. Absent factor VIII response to synthetic vasopressin analogue (DDAVP) in nephrogenic diabetes insipidus. Lancet 1 (1985) 1293–1294

    Article  PubMed  CAS  Google Scholar 

  • Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C. and Kunkel, L. M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected individual. Cell 50 (1987) 509–517

    Article  PubMed  CAS  Google Scholar 

  • Koufos, A., Hansen, M. F., Lampkin, B. C., Workman, M. L., Copeland, N. G., Jenkins, N. A. and Cavenee, W. K. Loss of alleles at loci on human chromosome 11 during genesis of Wilms’ tumour. Nature 309 (1984) 170–172

    Article  PubMed  CAS  Google Scholar 

  • Larsson, C., Skogseld, B., Oberg, K., Nakamura, Y. and Nordenskjold, M. Multiple endocrine neoplasia Type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 332 (1988) 85–87

    Article  PubMed  CAS  Google Scholar 

  • Lowe, C. U., Terrey, M. and MacLachlan, E. A. Organic-aciduria, decreased renal ammonia production, hydrophthalmos and mental retardation. Am. J. Dis. Child. 83 (1952) 164–168

    CAS  Google Scholar 

  • Lyon, M. F. Mechanisms and evolutionary origins of variable X chromosome activity in mammals. Proc. R. Soc. Lond. B 1987 (1974) 243–268

    Article  Google Scholar 

  • Lyon, M. F., Scriver, C. R., Baker, L. R. I., Tenenhouse, H. S., Kronick, J. and Mandla, S. The Gy mutation: another cause of X-linked hypophosphataemia in mouse. Proc. Natl. Acad. Sci. USA 83 (1986) 4899–4903

    Article  PubMed  CAS  Google Scholar 

  • Mächler, M., Fre, D., Gal, A., Orth, U., Wienker, T. F., Fanconi, A. and Schmid, W. X-linked dominant hypophosphataemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. Hum. Genet. 73 (1986) 271–275

    Article  PubMed  Google Scholar 

  • Manz, F., Scharer, K., Janka, P. and Lombeck, J. Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria arid nephocalcinosis in siblings. Eur. J. Pediatr. 128 (1978) 67–79

    Article  PubMed  CAS  Google Scholar 

  • Marx, S. J., Spiegel, A. M., Levine, M. A., Rizzoli, R. E., Lasker, R. D., Santora, A. C., Downs, R. V. Jr. and Aurbach, G. D. Familial hypocalciuric hypercalcaemia: the relation to primary parathyroid hyperplasia. N. Engl. J. Med. 307 (1982) 416–426

    Article  PubMed  CAS  Google Scholar 

  • Mathew, C. G. P., Smith, B. A., Thorpe, K., Wong, Z., Royle, N. J., Jeffreys, A. J. and Ponder, B. A. J. Deletion of genes on chromosome 1 in endocrine neoplasia. Nature 328 (1987) 524–526

    Article  PubMed  CAS  Google Scholar 

  • Mcllraith, C. H. Notes on some cases of diabetes insipidus with marked familial and hereditary tendencies. Lancet 2 (1892) 767–768

    Article  Google Scholar 

  • McKusick, V. A. Mendelian Inheritance in Man. 8th edition, Baltimore, John Hopkins University Press, 1988

    Google Scholar 

  • Meyer, M.. Mattei, J. F., Viallard, J. L., Goumy, P., Dastugue, B. and Malpuech, G. Hypocalcemie magnesodependante par trouble specifique de l’absorption du magnesium, associee a une anomalie chromosomique. Rev. Fr. Endocr. Clin. 19 (1978) 101–108

    Google Scholar 

  • Morton, N. E. Sequential tests for the detection of linkage. Am. J. Hum. Genet. 7 (1955) 277–318

    CAS  Google Scholar 

  • Naylor, S. L., Sakuguchi, A. Y., Szoka, P., Hendy, G. N., Kronenberg, H. M., Rich, A. and Shows, T. B. Human parathyroid hormone gene (PTH) is on the short arm of the chromosome 11. Somat. Cell Genet. 9 (1983) 609–616

    Article  PubMed  CAS  Google Scholar 

  • Ohno, S. Sex Chromosomes and Sex-linked Genes, Springer, Berlin, Heidelberg, New York, 1967

    Google Scholar 

  • Ott, J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am. J. Hum. Genet. 26 (1974) 588–597

    PubMed  CAS  Google Scholar 

  • Pallisgaard, G. and Goldschmidt, T. The oculo-cerebro-renal syndrome of Lowe in four generations of one family. Acta Paediatr. Scand. 60 (1971) 146–148

    Article  PubMed  CAS  Google Scholar 

  • Peden, V. H. True idiopathic hypoparathryoidism as a sex-linked recessive trait. Am. J. Hum. Genet. 12 (1960) 323–337

    CAS  Google Scholar 

  • Pembrey, M. E. Applications and limitations of direct DNA analysis in genetic prediction. J. Inher. Metab. Dis. 9 Suppl. 1 (1986) 38–48

    Article  Google Scholar 

  • Proto, G., Barberi, M., Cattalini, M. and Bertolissi, F. Transmissione autosomica dominante dell’ipoparatiroidismo idiopatico familiare. Estrat. Minerva Endocriniol. 10 (1985) 217–222

    CAS  Google Scholar 

  • Read, A. P., Thakker, R. V., Davies, K. E., Mountford, R. G., Brenton, D. P., Davies, M., Glorieux, F., Harris, R., Hendy, G. N., King, A., McGlade, S., Peacock, J., Smith, R. and O’Riordan, J. L. H. Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. Hum. Genet. 73 (1986) 267–270

    Article  PubMed  CAS  Google Scholar 

  • Rohn, R. D., Leffell, M. S., Leadem, P., Johnson, D., Rubiot, T. and Emanuel, B. S. Familial thirdfourth pharyngeal pouch syndrome with apparent autosomal dominant transmission. J. Pediatr. 105 (1984) 47–51

    Article  PubMed  CAS  Google Scholar 

  • Ruddle, F. H. The William Allan Memorial Award Address: Reverse genetics and beyond. Am. J. Hum. Genet. 36 (1984) 944–953

    PubMed  CAS  Google Scholar 

  • Schmidtke, J., Pape, B., Krenegel, U., Langenbeck, U., Cooper, D., Breyel, E. and Mayer, H. Restriction fragment length polymorphisms at the human parathyroid hormone gene locus. Hum. Genet. 67 (1984) 428–431

    Article  PubMed  CAS  Google Scholar 

  • Schmidtke, J., Kruse, K., Pape, B. and Sippell, G. Exclusion of close linkage between parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism. J. Med. Genet. 23 (1986) 217–219

    Article  PubMed  CAS  Google Scholar 

  • Silver, D. N., Lewis, R. A. and Nussbaum, R. L. Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J. Clin. Invest. 79 (1987) 282–285

    Article  PubMed  CAS  Google Scholar 

  • Stromme, J. H., Nesbakken, R., Normann, T., Skjorten, F., Skyberg, D. and Johannessen, B. Familial hypomagnesemia. Acta Paediatr. Scand. 58 (1969) 433–444

    Article  PubMed  CAS  Google Scholar 

  • Tenenhouse, H. S., Scriver, C. R., McInnes, R. R. and Glorieux, F. H. Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphataemic male mouse; Evidence for a defect in the brush border membrane. Kidney Int. 14 (1978) 236–244

    Article  PubMed  CAS  Google Scholar 

  • Thakker, R. V. Localisation of the hypophosphataemic rickets gene. Bone 5 (1988) 27–30

    Google Scholar 

  • Thakker, R. V. and O’Riordan, J. L. H. Inherited forms of rickets and osteomalacia. In Martin, T. J. (Ed.) Clinical Endocrinology and Metabolism, Vol. 2 No. 1, Metabolic Bone Disease. Balliere Tindall, London (1988) pp. 157–191

    Google Scholar 

  • Thakker, R. V., Davies, M., Davies, K. E., Hendy, G. N., McGlade, S., King, A., Read, A. P., Mountford, R. G., Kilgore, C. J., Glorieux, F., Brenton, D. P., Smith, R., Harris, R. and O’Riordan, J. L. H. Localisation of the gene causing X-linked hypophosphataemic rickets. Q. J. Med. 61 (1986) 1071–1072

    Google Scholar 

  • Thakker, R. V., Read, A. P., Davies, K. E., Whyte, M. P., Weksberg, R., Glorieux, F., Davies, M., Mountford, R. G., Harris, R., King, A., Kim, G. S., Fraser, D., Kooh, S. W. and O’Riordan, J. L. H. Bridging markers defining the map positon of X-linked hypophosphataemic rickets. J. Med. Genet. 24 (1987) 756–760

    Article  PubMed  CAS  Google Scholar 

  • Thakker, R. V., Davies, K. E., Whyte, M. P., Wooding, C. and O’Riordan, J. L. H. Localisation of the gene causing X-linked hypoparathyroidism to the long arm of the X-chromosome (Xq26-Xq27). J. Bone Min. Res. 3 (1988) S-210

    Google Scholar 

  • White, R., Leppert, M., Bishop, D. T., Barker, D., Berkowitz, J., Brown, C., Calahan, P., Holm, T. and Jerominski, L. Construction of linkage maps with DNA markers for human chromosomes. Nature 313 (1985) 101–105

    Article  PubMed  CAS  Google Scholar 

  • Whyte, M. P. and Weldon, V. V. Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. J. Pediatr. 99 (1981) 608–611

    Article  PubMed  CAS  Google Scholar 

  • Whyte, M. P., Kim, G. S. and Kosanovich, M. Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism. J. Pediatr. 109 (1986) 915

    PubMed  CAS  Google Scholar 

  • Winters, R. W., Graham, J. B., Williams, T. F., McFalls, V. W. and Burnett, C. H. A genetic study of familial hyophosphataemia and vitamin D resistant rickets with a review of the literature. Medicine 37 (1958) 97–142

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Molecular Medicine, Clinical Research Centre, Watford Road, Harrow, Middlesex, HA1 3UJ, UK

    R. V. Thakker

  2. Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, UK

    K. E. Davies

  3. The Middlesex Hospital, London, Wl, UK

    J. L. H. O’Riordan

Authors
  1. R. V. Thakker
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. K. E. Davies
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. L. H. O’Riordan
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

G. M. Addison J. M. Connor R. A. Harkness R. J. Pollitt

Rights and permissions

Reprints and permissions

Copyright information

© 1989 SSIEM and Kluwer Academic Publishers

About this chapter

Cite this chapter

Thakker, R.V., Davies, K.E., O’Riordan, J.L.H. (1989). Gene Mapping of Mineral Metabolic Disorders. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_18

Download citation

  • DOI: https://doi.org/10.1007/978-94-009-1069-0_18

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-6970-0

  • Online ISBN: 978-94-009-1069-0

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation