TY - JOUR
T1 - One SHOX Can Make You Short
AU - Yeshaya, Josepha
AU - Nahum, Odelia
AU - Legum, Cyril
AU - Udler, Yevgenia
AU - Shohat, Mordechai
AU - Yeshaya, Josepha
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
KW - Leri-Weill dyschondrosteosis
KW - SHOX haploinsufficiency
KW - Turner's syndrome
KW - fluorescent in situ hybridization (FISH)
KW - idiopathic short stature
UR - http://www.scopus.com/inward/record.url?scp=85025243324&partnerID=8YFLogxK
U2 - 10.1515/IJDHD.2002.3.1.3
DO - 10.1515/IJDHD.2002.3.1.3
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AN - SCOPUS:85025243324
SN - 2191-1231
VL - 3
SP - 3
EP - 12
JO - International Journal on Disability and Human Development
JF - International Journal on Disability and Human Development
IS - 1
ER -