title: Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.
abstract: OBJECTIVE
  Léri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was to improve the diagnosis of patients with suspected LWD through molecular analysis.
  
  
  METHODS
  Twelve patients from 11 families with a clinical diagnosis of LWD were analyzed with multiplex ligation-dependent probe amplification to detect deletions and duplications of SHOX and its enhancer regions. High resolution melting and sequencing was employed to screen for mutations in SHOX coding exons.
  
  
  RESULTS
  The molecular-based screening strategy applied in these patients allowed detection of five SHOX deletions and two previously unreported SHOX missense mutations.
  
  
  CONCLUSIONS
  Molecular studies confirmed the clinical diagnosis of LWD in seven out of 12 patients, which provided support for therapeutic decisions and improved genetic counseling in their families.
authors.forename: Fernando Adrián
authors.initials: FA
authors.lastname: Rodríguez
authors.forename: Nancy
authors.initials: N
authors.lastname: Unanue
authors.forename: María Isabel
authors.initials: MI
authors.lastname: Hernandez
authors.forename: Javiera
authors.initials: J
authors.lastname: Basaure
authors.forename: Karen Elise
authors.initials: KE
authors.lastname: Heath
authors.forename: Fernando
authors.initials: F
authors.lastname: Cassorla
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002677:Chile; D005260:Female; D017353:Gene Deletion; 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
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein