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      SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

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          Abstract

          SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP, Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy require confirmation. Future challenges in SHOX research include elucidating its precise function in the developing limbs, identifying additional cis-acting enhancers, and determining optimal therapeutic strategies for patients.

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          Author and article information

          Journal
          Mol Syndromol
          Mol Syndromol
          MSY
          Molecular Syndromology
          S. Karger AG (Allschwilerstrasse 10, P.O. Box · Postfach · Case postale, CH–4009, Basel, Switzerland · Schweiz · Suisse, Phone: +41 61 306 11 11, Fax: +41 61 306 12 34, karger@karger.ch )
          1661-8769
          1661-8777
          April 2016
          15 March 2016
          1 October 2016
          : 7
          : 1
          : 3-11
          Affiliations
          aDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Hamamatsu, Japan
          bDepartment of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan
          cDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
          Author notes
          *Maki Fukami, Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535 (Japan), E-Mail fukami-m@ 123456ncchd.go.jp
          Article
          PMC4862394 PMC4862394 4862394 msy-0007-0003
          10.1159/000444596
          4862394
          27194967
          Copyright © 2016 by S. Karger AG, Basel
          Page count
          Figures: 3, Tables: 1, References: 74, Pages: 9
          Categories
          Review Article

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