One SHOX can make you short

Josepha Yeshaya, Odelia Nahum, Cyril Legum, Yevgenia Udler, Mordechai Shohat

Research output: Contribution to journalReview articlepeer-review

Abstract

Growth is a complex procedure governed by hormonal, genetic and environmental factors. One genetic factor is the SHOX gene that was discovered in 1997. This gene was mapped to the pseudoautosomal region of the sex chromosomes, and shows a unique way of segregating due to the recombination that occurs in this region. SHOX haploinsufficiency, caused by deletion or mutation, is responsible for the phenotype seen in Leri-Weill dyschondrosteosis, the skeletal features in females with Turner's syndrome, and for 2% of idiopathic short stature. In this review, we summarize the clinical features and the diagnosis of SHOX haploinsufficiency, as well as the existing therapeutic options. We also describe two families with SHOX haploinsufficiency, one of them due to deletion of the gene and the other due to an X-Y translocation. The identification of SHOX haploinsufficiency is important for treatment of the probands and genetic counseling to the families.

Original languageEnglish
Pages (from-to)3-12
Number of pages10
JournalJournal of Endocrine Genetics
Volume3
Issue number1
StatePublished - 2002

Keywords

  • Fluorescent in situ hybridization (FISH)
  • Idiopathic short stature
  • Leri-Weill dyschondrosteosis
  • SHOX haploinsufficiency
  • Turner's syndrome

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