title: Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report.
abstract: BACKGROUND
  Mutations in the gene encoding the type II collagen gene (COL2A1) have been found to affect the entire skeletal system. Recently, inheritable skeletal dysplasia caused by novel COL2A1 mutations has been linked to an inherited disease of the hip joint that neither involves the entire skeletal system nor is characterized by the presence of concomitant disorders, such as spinal or ocular abnormalities.
  
  
  METHODS
  A 27-year-old Japanese woman previously diagnosed with avasucular necrosis (AVN) of the femoral head on the basis of radiological findings was referred to the study site for surgical management of a painful hip joint. She had no history of disease but suffered from bilateral hip joint lesions. Analysis of her pedigree revealed that bilateral hip joint lesions affected more than three generations of her family. Based on these findings, haplotype analysis of her and her family members was performed by examining select candidate genes from the critical interval for epiphyseal dysplasia of the femoral head on 12q13 and sequencing the promoter and exonic regions of COL2A1.
  
  
  CONCLUSIONS
  A novel COL2A1 mutation (c.1744G>A) was identified within one Japanese family.
authors.affiliation: Department of Orthopaedic Surgery, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan. kishiya@isis.ocn.ne.jp.
authors.forename: Masaki
authors.initials: M
authors.lastname: Kishiya
authors.forename: Yoshihide
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Hirotaka
authors.initials: H
authors.lastname: Ohishi
authors.forename: Ken-Ichi
authors.initials: K
authors.lastname: Furukawa
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Ishibashi
mesh_terms: D000328:Adult; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D005271:Femur Head Necrosis / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006621:Hip Joint / Q000000981:diagnostic imaging* / Q000473:pathology*; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II