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Related Experiment Videos

Phenotypes Associated with SHOX Deficiency.

J L Ross1, C Scott, P Marttila

  • 1Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. Judith.Ross@mail.tju.edu

The Journal of Clinical Endocrinology and Metabolism
|December 12, 2001
PubMed
Summary
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Leri-Weill dyschondrosteosis is caused by SHOX gene haploinsufficiency, leading to Madelung deformity and short stature. Phenotype varies with gender and age, with females more affected by Madelung deformity.

Area of Science:

  • Genetics
  • Endocrinology
  • Orthopedics

Background:

  • Leri-Weill dyschondrosteosis (LWD) is an inherited skeletal disorder.
  • It is characterized by Madelung wrist deformity, mesomelia, and short stature.
  • LWD is genetically defined by SHOX gene haploinsufficiency.

Purpose of the Study:

  • Investigate the relationship between SHOX mutations, height deficit, and Madelung deformity in LWD.
  • Determine the contribution of SHOX haploinsufficiency to LWD and Turner syndrome (TS) phenotypes.
  • Examine the effects of age, gender, and puberty on the LWD phenotype.

Main Methods:

  • Studied 21 LWD families with confirmed SHOX abnormalities.
  • Analyzed SHOX deletions and point mutations.
  • Assessed height deficits and Madelung deformity prevalence.

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Main Results:

  • SHOX deletions found in 81% and point mutations in 19% of LWD cases.
  • Height deficit averaged -2.2 SD, with no significant effect of age, gender, or puberty.
  • Madelung deformity present in 74%, more frequent/severe in females; LWD height deficit is ~2/3 of TS.

Conclusions:

  • SHOX deletions or mutations account for all studied LWD cases.
  • SHOX haploinsufficiency explains most of the TS height deficit.
  • LWD phenotype exhibits gender and age-related variations.