Short stature and dysmorphology associated with defects in the SHOX gene.
Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. Furthermore, SHOX has a broad functional scope and leads to a variety of different morphological-skeletal stigmata associated with these syndromes. This article reviews clinical and molecular data associated SHOX gene defects. Functional ongoing studies are expected to improve our understanding of the SHOX gene as comprising part of a genetic process responsible for normal growth and bone development.
Leka
Sofia K
SK
Horemis Research Laboratory, Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece. sleka@med.uoa.gr
Kitsiou-Tzeli
Sofia
S
Kalpini-Mavrou
Ariadni
A
Kanavakis
Emmanuel
E
D050280:Arm Bones / Q000000981:diagnostic imaging; D001848:Bone Diseases, Developmental / Q000235:genetics; D004392:Dwarfism / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000502:physiology; D010009:Osteochondrodysplasias / Q000235:genetics; D011859:Radiography; D000074122:Short Stature Homeobox Protein; D013577:Syndrome; D014424:Turner Syndrome / Q000235:genetics
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein