Skip to main content
SpringerLink
Log in

SHOX Mutations

  • Published:
Reviews in Endocrine and Metabolic Disorders Aims and scope Submit manuscript

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature andTurner syndrome. Nature Genet 1997;16:54–63.

    Google Scholar 

  2. Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 1997;6:1341–1347.

    Google Scholar 

  3. Gehring WJ, Affolter M, Bürglin T. Homeodomain proteins. Annu Rev Biochem 1994;63:487–526.

    Google Scholar 

  4. Krumlauf R. Hox genes in vertebrate development. Cell 1995;78:191–201.

    Google Scholar 

  5. Boncinelli E. Homeobox genes and disease. Curr Opin Genet Dev 1997;7:331–337.

    Google Scholar 

  6. Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired gene domain gene causesWaardenburg's syndrome. Nature 1992;355:637–638.

    Google Scholar 

  7. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992;2:232–239.

    Google Scholar 

  8. Muragaki Y, Mundlos S, Upton J, Olson BJ. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996;272:548–551.

    Google Scholar 

  9. Koch CA, Anderson D, Moran MF, Ellis C, Pawson T. SH2 and SH3 domains: Elements that control interactions of cytoplasmic signaling proteins. Science 1991;252:668–674.

    Google Scholar 

  10. Blaschke RJ, Monaghan AP, Schiller S, Schechinger B, Rao E, Padilla-Nash H, Ried T, Rappold GA. SHOT, a SHOX-related homeobox-gene, is implicated in craniofacial, brain, heart, and limb development. Proc Natl Acad Sci USA 1998;95:2406–2411.

    Google Scholar 

  11. Semina EV, Reiter RS, Murray JC. A new homeobox gene OG12X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse. Hum Mol Genet 1998;7:415–422.

    Google Scholar 

  12. Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000;9:695–702.

    Google Scholar 

  13. Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome. J Clin Endocrinol Metab 1999;84:4613–4621.

    Google Scholar 

  14. Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM. Mutation and deletion of the pseudoautosomal gene SHOX cause Léri-Weill dyschondrosteosis. Nat Genet 1998;19:70–73.

    Google Scholar 

  15. Lichtenstein JR, Sundaram M, Burdge R. Sex-influenced expression of Madelung's deformity in a family with dyschonrosteosis. J Med Genet 1980;17:41–43.

    Google Scholar 

  16. Ogata T, Matsuo N, Nishimura G. SHOX haploinsufficiency and overdosage: Impact of gonadal function status (review). J Med Genet 2001;38:1–6.

    Google Scholar 

  17. Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V. SHOX mutations in dyschondrosteosis (Léri-Weill syndrome). Nat Genet 1998;19:67–69.

    Google Scholar 

  18. Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadopoulou E, Reinehr T, Onigata K, Ogata T. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 2002;87:1402–406.

    Google Scholar 

  19. Vuguin P, Shanske A, Ellison J, Dowling P, Heinrich J, Saenger P. The effect of growth hormone treatment in idiopathic short stature with SHOX mutation. Pediatr Res 1998;43:87A.

    Google Scholar 

  20. Binder G, Schwarze CP, Ranke MB. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab 2000;85:245–249.

    Google Scholar 

  21. Langer LO. Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. Radiology 1967;89:654–660.

    Google Scholar 

  22. Grigelioniene G, Eklof O, Ivarsson SA, Westphal O, Neumeyer L, Kedra D, Dumanski J, Hagenas L. Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. Hum Genet 2000;107:145–149.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 94305, USA

    Raymond L. Hintz

Authors
  1. Raymond L. Hintz
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hintz, R.L. SHOX Mutations . Rev Endocr Metab Disord 3, 363–367 (2002). https://doi.org/10.1023/A:1020909925921

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1020909925921

Search

Navigation