title: Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.
abstract: BACKGROUND
  SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations. It has been recently demonstrated that these deletions can involve the SHOX enhancer region, rather that the coding region, with variable phenotype of the affected patients.Here, we report a SHOX gene analysis carried out by MLPA in 14 LWD patients from 4 families with variable phenotype.
  
  
  METHODS
  All patients presented a SHOX enhancer deletion. In particular, a patient with a severe bilateral Madelung deformity without short stature showed a homozygous alteration identical to the recently described 47.5 kb PAR1 deletion. Moreover, we identified, for the first time, in three related patients with a severe bilateral Madelung deformity, a smaller deletion than the 47.5 kb PAR1 deletion encompassing the same enhancer region (ECR1/CNE7).
  
  
  CONCLUSIONS
  Data reported in this study provide new information about the spectrum of phenotypic alterations showed by LWD patients with different deletions of the SHOX enhancer region.
authors: Department of Psychological, Humanities and Territory Sciences, School of Medicine and Health Sciences, "G, d'Annunzio" University of Chieti, via dei Vestini 31, 66013 Chieti, Italy. v.gatta@unich.it.
authors: Valentina
authors: V
authors: Gatta
authors: Chiara
authors: C
authors: Palka
authors: Valentina
authors: V
authors: Chiavaroli
authors: Sara
authors: S
authors: Franchi
authors: Giovanni
authors: G
authors: Cannataro
authors: Massimo
authors: M
authors: Savastano
authors: Antonio Raffaele
authors: AR
authors: Cotroneo
authors: Francesco
authors: F
authors: Chiarelli
authors: Angelika
authors: A
authors: Mohn
authors: Liborio
authors: L
authors: Stuppia
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D004742:Enhancer Elements, Genetic; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D044463:Receptor, PAR-1 / Q000235:genetics*; D017384:Sequence Deletion; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; D044463:Receptor, PAR-1; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein