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SHOX haploinsufficiency and its modifying factors.
1Department of Pediatrics, Keio University School of Medicine and Tokyo Electric Power Company Hospital, Tokyo, Japan. tomogata@nch.go.jp
Journal of Pediatric Endocrinology & Metabolism : JPEM
|January 4, 2003
Summary
Short stature homeobox (SHOX) gene haploinsufficiency causes short stature and distinct skeletal features in Turner syndrome. This review details clinical findings related to SHOX gene variations and their skeletal manifestations.
Area of Science:
- Genetics
- Endocrinology
- Skeletal Biology
Background:
- The short stature homeobox (SHOX) gene is implicated in Turner syndrome.
- SHOX haploinsufficiency is linked to specific skeletal abnormalities.
Purpose of the Study:
- To review clinical findings in patients with SHOX haploinsufficiency.
- To correlate SHOX gene variations with Turner skeletal features.
Main Methods:
- Review of clinical data from patients with SHOX haploinsufficiency.
- Analysis of genetic causes including intragenic mutations, deletions, and Xp deletions.
Main Results:
- SHOX haploinsufficiency leads to short stature and characteristic Turner skeletal features.
- Features include cubitus valgus, short metacarpals, Madelung deformity, and Léri-Weill dyschondrosteosis.
- Skeletal features result from estrogen effects and lymphatic compression on developing tissues.
Conclusions:
- SHOX gene variations are critical in the pathogenesis of Turner syndrome skeletal features.
- Understanding SHOX haploinsufficiency aids in diagnosing and managing Turner syndrome related skeletal abnormalities.