title: The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).
abstract: Infantile cortical hyperostosis (ICH) is characterized by spontaneous episodes of subperiosteal new bone formation in the long bones, mandible, and clavicle during infancy. A heterozygous missense mutation, c.3040C > T (p.R1014C), in the type I collagen alpha1 chain gene (COL1A1) was reported in families with the autosomal dominant form of ICH. We examined six consecutive cases of ICH from five unrelated families and their parents. The mutation was identified in all patients and two parents tested. Our result supported that ICH is caused by the single mutation in COL1A1 with incomplete penetrance.
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University Children's Hospital, 28, Yeongeon-dong, Jongno-gu, Seoul, 110-744, South Korea. tjcho@snu.ac.kr.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University Children's Hospital, 28, Yeongeon-dong, Jongno-gu, Seoul, 110-744, South Korea.
authors.forename: Hyuk Ju
authors.initials: HJ
authors.lastname: Moon
authors.affiliation: Clinical Research Institute, LabGenomics, Seoul, South Korea.
authors.forename: Dae-Yeon
authors.initials: DY
authors.lastname: Cho
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University Bundang Hospital, Gyeonggi, South Korea.
authors.forename: Moon Seok
authors.initials: MS
authors.lastname: Park
authors.affiliation: Department of Orthopaedic Surgery, Kangwon National University Hospital, Gangwon, South Korea.
authors.forename: Dong Yeon
authors.initials: DY
authors.lastname: Lee
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University Children's Hospital, 28, Yeongeon-dong, Jongno-gu, Seoul, 110-744, South Korea.
authors.forename: Won Joon
authors.initials: WJ
authors.lastname: Yoo
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University Bundang Hospital, Gyeonggi, South Korea.
authors.forename: Chin Youb
authors.initials: CY
authors.lastname: Chung
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University Children's Hospital, 28, Yeongeon-dong, Jongno-gu, Seoul, 110-744, South Korea.
authors.forename: In Ho
authors.initials: IH
authors.lastname: Choi
mesh_terms: D002675:Child, Preschool; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain