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J Clin Pathol. 2012 Sep;65(9):844-6. doi: 10.1136/jclinpath-2011-200626. Epub 2012 Mar 29.

A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.

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Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Spain.


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.

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