The human SHOX mutation database

Hum Mutat. 2002 Nov;20(5):338-41. doi: 10.1002/humu.10125.


The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, Lèri-Weill dyschondrosteosis, Langer syndrome, and Turner syndrome. So far, the database contains 29 unique intragenic mutations of the SHOX gene. These mutations were detected in a total of 39 patients from different families. Fourteen of these mutations have been found from the SHOX research group at the Institute of Human Genetics in Heidelberg, Germany; 25 mutations are from data reported in the literature. Not included in this database are complete SHOX gene deletions which represent the majority of all detectable SHOX mutations [Rappold et al., 2002]. The database is accessible via the website It contains general information about the SHOX gene, and allows remote users to search the data and to submit new mutations to the database.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Databases, Nucleic Acid*
  • Genetic Diseases, Inborn / genetics
  • Homeodomain Proteins / genetics*
  • Humans
  • Internet
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Short Stature Homeobox Protein
  • Software


  • Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein

Associated data

  • GENBANK/U82668
  • OMIM/127300
  • OMIM/249700
  • OMIM/312865
  • OMIM/604271