Open AccessNovel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects
Author(s) -
Sjoerd D. Joustra,
Gerdine A Kamp,
Susanne E. Stalman,
Stephany Donze,
Monique Losekoot,
Sarina G. Kant,
Christiaan de Bruin,
Wilma Oostdijk,
Jan M. Wit
Publication year - 2019
Publication title -
hormone research in paediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.816
H-Index - 89
eISSN - 1663-2826
pISSN - 1663-2818
DOI - 10.1159/000507215
Subject(s) - haploinsufficiency , short stature , homeobox , enhancer , idiopathic short stature , genetics , biology , human genetics , gene , medicine , growth hormone , endocrinology , phenotype , hormone , gene expression
Short stature homeobox-containing gene (SHOX) haploinsufficiency is associated with short stature, Madelung deformity and mesomelia. Current clinical screening tools are based on patients with intragenic variants or deletions. However, recent discoveries showed that deletions of the enhancer elements are quite common. The majority of these patients show less body disproportion and respond better to recombinant human growth hormone treatment. We redefined clinical criteria for genetic analysis to facilitate detection of the full spectrum of SHOX haploinsufficiency.