title: Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.
abstract: OBJECTIVE
  The frequency of mutations in the short stature homeobox (SHOX) gene in patients with idiopathic short stature (ISS) ranges widely, depending mostly on the mutation detection technique and inclusion criteria. We present phenotypic and genotypic data on 38 Turkish patients with ISS and the distinctive features of 1 patient with a SHOX deletion.
  
  
  METHODS
  Microsatellite markers (MSMs) DXYS10092 (GA repeats) and DXYS10093 (CT repeats) were used to select patients for fluorescent in situ hybridisation (FISH) analysis and to screen for deletions in the SHOX gene. The FISH analysis was applied to patients homozygous for at least one MSM. A Sanger sequencing analysis was performed on patients with no deletions according to FISH to investigate point mutations in the SHOX gene.
  
  
  RESULTS
  One patient (2.6%) had a SHOX mutation.
  
  
  CONCLUSIONS
  Although the number of cases was limited and the mutation analysis techniques we used cannot detect all mutations, our findings emphasize the importance of the difference in arm span and height when selecting patients for SHOX gene testing.
authors.affiliation: Marmara University Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey Phone: +90 216 625 45 45-9129/9120 E-mail: delilkenan@gmail.com.
authors.forename: Kenan
authors.initials: K
authors.lastname: Delil
authors.forename: Halil Gürhan
authors.initials: HG
authors.lastname: Karabulut
authors.forename: Bülent
authors.initials: B
authors.lastname: Hacıhamdioğlu
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Şıklar
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
authors.forename: Gönül
authors.initials: G
authors.lastname: Öçal
authors.forename: Ajlan
authors.initials: A
authors.lastname: Tükün
authors.forename: Hatice Ilgın
authors.initials: HI
authors.lastname: Ruhi
mesh_terms: D000293:Adolescent; D001827:Body Height / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D018895:Microsatellite Repeats; D000074122:Short Stature Homeobox Protein; D014421:Turkey
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein