title: Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family.
abstract: Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by susceptibility to bone fractures ranging in severity from perinatal death to a subtle increase in fracture frequency. We report the case of a patient who appeared healthy at birth and did not experience any fractures until 12 months of age. We observed blue sclera, frequent fractures without commensurate trauma, nearly normal stature, the absence of dentinogenesis imperfecta, no bony deformity, and no limitation of mobility in the patient--all characteristics suggestive of OI Type I. The patient's mother also had blue sclera and a history of frequent fracture episodes until the age of 15 years. A novel COL1A1 missense mutation (c.2T>G) disrupting the start codon of the gene (ATG to AGG (Met1Arg)) was found in the patient and his mother.
authors.affiliation: Department of Pediatrics, Hanyang University Guri Hopistal, Hanyang University College of Medicine, Guri.
authors.forename: Sung Yoon
authors.initials: SY
authors.lastname: Cho
authors.affiliation: Department of Pediatrics, Chungbuk National University Hospital, Chungbuk National University College of Medicine.
authors.forename: Ji-Ho
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul.
authors.forename: Mi Sun
authors.initials: MS
authors.lastname: Chang
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul.
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
authors.affiliation: Department of Pediatrics, Chungbuk National University Hospital, Chungbuk National University College of Medicine hshan@chungbuk.ac.kr.
authors.forename: Heon-Seok
authors.initials: HS
authors.lastname: Han
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D018387:Codon, Initiator / Q000235:genetics*; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004252:DNA Mutational Analysis; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D015894:Genome, Human; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D011247:Pregnancy; D011859:Radiography; D056910:Republic of Korea
chemical_list: D018387:Codon, Initiator; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain
keywords: COL1A1; Met1Arg; osteogenesis imperfecta; osteogenesis imperfecta Type I