title: Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
abstract: BACKGROUND
  Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass.
  
  
  METHODS
  The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62 years) from 37 unrelated families. The clinical features of these patients were also recorded.
  
  
  RESULTS
  Thirty-seven COL1A1 and COL1A2 mutations were identified, including 28 COL1A1 mutations and 9 COL1A2 mutations. Fifteen (41%) were novel mutations, and twelve (32%) were familial mutations. A review of their medical records revealed that the 72 patients could be classified into OI type I (n = 42), III (n = 5), and IV (n = 25). Twenty-nine patients had helical mutations (caused by the substitution of a glycine within the Gly-X-Y triplet domain of the triple helix), and 42 had haploinsufficiency mutations (caused by frameshift, nonsense, and splice-site mutations). Compared with haploinsufficiency, the patients with helical mutations had more severely impaired skeletal phenotypes, including shorter height, lower bone mineral density, poorer walking ability, more frequent manifestations of dentinogenesis imperfecta and scoliosis (p < 0.05).
  
  
  CONCLUSIONS
  Genotype and phenotype databases are expected to promote better genetic counseling and medical care of patients with OI.
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.|Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan.|Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.|Mackay Medicine, Nursing and Management College, Taipei, Taiwan.|Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.|Medical College, Fu-Jen Catholic University, Taipei, Taiwan.|Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan.
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.|Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan.|Mackay Medicine, Nursing and Management College, Taipei, Taiwan.
authors.forename: Ming-Ren
authors.initials: MR
authors.lastname: Chen
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan.
authors.forename: Hui-Chin
authors.initials: HC
authors.lastname: Chiu
authors.affiliation: Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.|Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. zsplin14@gmail.com.|Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan. zsplin14@gmail.com.|Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan. zsplin14@gmail.com.|Mackay Medicine, Nursing and Management College, Taipei, Taiwan. zsplin14@gmail.com.|Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. zsplin14@gmail.com.
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
mesh_terms: D000293:Adolescent; D000328:Adult; D015519:Bone Density / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D012189:Retrospective Studies; D013624:Taiwan / Q000453:epidemiology; D055815:Young Adult