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A170P mutation in SHOX gene in a patient not presenting with Madelung deformity
  1. María Isabel Álvarez-Mora1,2,
  2. Irene Madrigal1,2,
  3. Laia Rodriguez-Revenga1,2,
  4. Antonio Mur3,4,
  5. Dolors Calvo5,
  6. Josep Pascual i Bardají5,
  7. Montserrat Milà1,2
  1. 1Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Spain
  2. 2CIBER de Enfermedades raras (CIBERER) Instituto Carlos III, SpainCIBER de Enfermedades raras (CIBERER) Instituto Carlos III, Spain
  3. 3Servicio de Pediatría, Hospital del Mar, Barcelona, Spain
  4. 4Departamento de Pediatría y Obstectricia de la UAB
  5. 5Residencia El Lluc, ACAM
  1. Correspondence to Dr Montserrat Milà, Recasens, Cap de Secció de Genètica Molecular, Servei de Bioquímica i Genètica Molecular, Hospital Clínic Barcelona, Villarroel 170, 08036 Barcelona, Spain; mmila{at}


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.

  • A170P
  • SHOX
  • ISS
  • Madelung deformity
  • genetics
  • molecular genetics
  • nephrology
  • education
  • cytogenetics
  • central nerve system
  • neurodegeneration
  • neuropathology
  • molecular biology

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  • 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.