The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).
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.
Cho
Tae-Joon
TJ
Department of Orthopaedic Surgery, Seoul National University Children's Hospital, 28, Yeongeon-dong, Jongno-gu, Seoul, 110-744, South Korea. tjcho@snu.ac.kr.
Moon
Hyuk Ju
HJ
Department of Orthopaedic Surgery, Seoul National University Children's Hospital, 28, Yeongeon-dong, Jongno-gu, Seoul, 110-744, South Korea.
Cho
Dae-Yeon
DY
Clinical Research Institute, LabGenomics, Seoul, South Korea.
Park
Moon Seok
MS
Department of Orthopaedic Surgery, Seoul National University Bundang Hospital, Gyeonggi, South Korea.
Lee
Dong Yeon
DY
Department of Orthopaedic Surgery, Kangwon National University Hospital, Gangwon, South Korea.
Yoo
Won Joon
WJ
Department of Orthopaedic Surgery, Seoul National University Children's Hospital, 28, Yeongeon-dong, Jongno-gu, Seoul, 110-744, South Korea.
Chung
Chin Youb
CY
Department of Orthopaedic Surgery, Seoul National University Bundang Hospital, Gyeonggi, South Korea.
Choi
In Ho
IH
Department of Orthopaedic Surgery, Seoul National University Children's Hospital, 28, Yeongeon-dong, Jongno-gu, Seoul, 110-744, South Korea.
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
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain