Idiopathic short stature is a multifactorial disease caused by defects in several genes. Among them, short stature homeobox-containing gene (SHOX) mutations have an incidence of 2%–15% within the idiopathic short population. The authors report a patient with moderate intellectual disability, short stature and no other radiological traits referred for subtelomeric screening. MLPA and sequencing results showed a heterozygous mutation in SHOX gene (A170P). This mutation has been described to fully cosegregate with Madelung deformity in patients affected with Léri–Weill dyschondrosteosis and Langer mesomelic dysplasia. The authors report the first case of idiopathic short stature due to the A170P mutation in a patient without any radiological trait. The A170P mutation is the most prevalent mutation in the Spanish gypsy population affected with short stature disorders. The authors strongly recommend SHOX screening for deletions, duplications and point mutations in patients affected with short stature although they do not present any radiological traits.
- Madelung deformity
- molecular genetics
- central nerve system
- molecular biology
Statistics from Altmetric.com
Competing interests None.
Patient consent Obtained.
Ethics approval Approval provided by the Hospital Clinic Ethics Committee.
Provenance and peer review Not commissioned; externally peer reviewed.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.