[From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].
Léri-Weill dyschondrosteosis is a pseudodominant hereditary skeletal dysplasia associated with haploinsufficiency of the SHOX gene. The SHOX gene is located on the pseudoautosomal region of both the X-chromosome and the Y-chromosome, and belongs to the homeobox genes, which code for transcription factors involved in early foetal development. Mutations in the SHOX gene, especially deletions, are detected in approximately 60% of patients with Léri-Weill dyschondrosteosis. The SHOX gene is also involved in skeletal abnormalities in Turner syndrome and possibly plays a role in idiopathic short stature.
Kant
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SG
Leids Universitair Medisch Centrum, afd. Klinische Genetica, Postbus 9000, 2300 RC Leiden. s.g.kant@lumc.nl
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D002648:Child; D005260:Female; D005801:Genes, Homeobox; D006130:Growth Disorders / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D000074122:Short Stature Homeobox Protein; D013577:Syndrome; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome / Q000235:genetics
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein