title: Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.
abstract: CONCLUSIONS
  The two discovered mutations in COL1A1 gene, although first reported in China, are recurrent ones that have also been found elsewhere in type I osteogenesis imperfecta patients, suggesting their role in pathogenesis of Van der Hoeve syndrome.
  
  
  OBJECTIVE
  The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness.
  
  
  METHODS
  Genomic DNA was extracted from the blood of each patient and exons of COL1A1 gene were amplified using PCR and sequenced.
  
  
  RESULTS
  Sequencing in some of the two family members revealed point mutations in exon 26 (c.1792C > T) and exon 43 (c.3076C > T) of COL1A1 gene, respectively.
authors.affiliation: a Institute of Otolaryngology, Chinese PLA General Hospital , Beijing , PR China ;|b Department of Otolaryngology , Affiliated Hospital of Inner Mongolia Medical University , Hohhot , Inner Mongolia Province , PR China ;
authors.forename: Hong
authors.initials: H
authors.lastname: Duan
authors.affiliation: c 97th hospital of PLA (the Chinese People Liberation Army) , Xuzhou City , Jiangsu Province , PR China ;
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Yan
authors.affiliation: a Institute of Otolaryngology, Chinese PLA General Hospital , Beijing , PR China ;
authors.forename: Yu
authors.initials: Y
authors.lastname: Lu
authors.affiliation: d Medical Genetics Center, Southwest Hospital , Third Military Medical University , Chongqing , PR China ;
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.affiliation: e Department of Otorhinolaryngology Head and Neck Surgery , Institute of Otorhinolaryngology, Tianjin First Center Hospital , Tianjin , PR China.
authors.forename: Di
authors.initials: D
authors.lastname: Zhang
authors.affiliation: d Medical Genetics Center, Southwest Hospital , Third Military Medical University , Chongqing , PR China ;
authors.forename: Huijun
authors.initials: H
authors.lastname: Yuan
authors.affiliation: a Institute of Otolaryngology, Chinese PLA General Hospital , Beijing , PR China ;
authors.forename: Dongyi
authors.initials: D
authors.lastname: Han
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D017354:Point Mutation
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain
keywords: COL1A1 gene; Van der Hoeve syndrome; mutation