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The human SHOX mutation database.

Beate Niesler1, Christine Fischer, Gudrun A Rappold

  • 1Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.

Human Mutation
|October 29, 2002
PubMed
Summary
This summary is machine-generated.

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A new SHOX database offers a central resource for researchers and clinicians studying short stature. It details 29 intragenic SHOX gene mutations found in 39 patients, aiding in the diagnosis of related genetic disorders.

Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Short stature is often linked to SHOX gene mutations.
  • Existing data on SHOX mutations is fragmented, hindering research and clinical application.
  • A centralized resource is needed to consolidate information on SHOX gene variations and associated phenotypes.

Purpose of the Study:

  • To establish a comprehensive database of SHOX gene mutations.
  • To provide a centralized information source for clinicians and scientists.
  • To facilitate the study of short stature phenotypes linked to SHOX mutations.

Main Methods:

  • Compilation of known intragenic SHOX gene mutations from a research group and literature.
  • Inclusion of mutation data from 39 patients across different families.

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  • Exclusion of complete SHOX gene deletions, which constitute the majority of mutations.

    • Main Results:

    • The database currently contains 29 unique intragenic SHOX mutations.
    • These mutations were identified in 39 patients.
    • The database includes mutations from a Heidelberg research group and published literature.

    Conclusions:

    • The SHOX database provides a valuable resource for understanding SHOX-related short stature.
    • It centralizes information on intragenic mutations, aiding diagnosis and research.
    • Future updates may incorporate other mutation types, like deletions, for a more complete picture.