SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature
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...
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| Published in | Molecular syndromology Vol. 7; no. 1; pp. 3 - 11 |
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| Main Authors | , , |
| Format | Journal Article |
| Language | English |
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Basel, Switzerland
S. Karger AG
01.04.2016
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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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| AbstractList | 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. 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. |
| Author | Ogata, Tsutomu Fukami, Maki Seki, Atsuhito |
| AuthorAffiliation | b Department of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan c Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan a Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Hamamatsu, Japan |
| AuthorAffiliation_xml | – name: a Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Hamamatsu, Japan – name: c Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan – name: b Department of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan |
| Author_xml | – sequence: 1 givenname: Maki surname: Fukami fullname: Fukami, Maki email: fukami-m@ncchd.go.jp – sequence: 2 givenname: Atsuhito surname: Seki fullname: Seki, Atsuhito – sequence: 3 givenname: Tsutomu surname: Ogata fullname: Ogata, Tsutomu |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27194967$$D View this record in MEDLINE/PubMed |
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| Keywords | Léri-Weill syndrome Skeletal deformity Pseudoautosomal region Short stature Bone Mutation Turner syndrome |
| Language | English |
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| Title | SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature |
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