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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
Open accessAbstract
Infantile cortical hyperostosis (Caffey disease) is characterized by spontaneous episodes of subperiosteal new bone formation along 1 or more bones commencing within the first 5 months of life. A genome-wide screen for genetic linkage in a large family with an autosomal dominant form of Caffey disease (ADC) revealed a locus on chromosome 17q21 (LOD score, 6.78). Affected individuals and obligate carriers were heterozygous for a missense mutation (3040Ctwo head right arrowT) in exon 41 of the gene encoding the alpha1(I) chain of type I collagen (COL1A1), altering residue 836 (R836C) in the triple-helical domain of this chain. The same mutation was identified in affected members of 2 unrelated, smaller families with ADC, but not in 2 prenatal cases and not in more than 300 chromosomes from healthy individuals. Fibroblast cultures from an affected individual produced abnormal disulfide-bonded dimeric alpha1(I) chains. Dermal collagen fibrils of the same individual were larger, more variable in shape and size, and less densely packed than those in control samples. Individuals bearing the mutation, whether they had experienced an episode of cortical hyperostosis or not, had joint hyperlaxity, hyperextensible skin, and inguinal hernias resembling symptoms of a mild form of Ehlers-Danlos syndrome type III. These findings extend the spectrum of COL1A1-related diseases to include a hyperostotic disorder.
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“c.3040C>T,p.(Arg1014Cys) is associated with autosomal dominant Caffey disease [Gensure et al., 2005]”
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Metadata
- Authors
- Gensure, R. C., Mäkitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., Ala Kokko, L., Seidman, J. G., Cole, W. G., & Jüppner, H.
- Affiliations
- Harvard University (US)
- Helsinki University Hospital (FI)
- Hospital for Sick Children (CA)
- Howard Hughes Medical Institute (US)
- Women's and Children's Hospital (AU)
- Max Planck Institute for Molecular Genetics (DE)
- Children's Hospital at Westmead (AU)
- Corresponding author
- Jüppner, Harald
- ORCID
- Venue
- Journal of Clinical Investigation
- Published
- 2005-05-02
- Volume
- 115
- Issue
- 5
- Pages
- 1250-1257
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2162444478
- Cited by
- 172
- References
- 56
- Citations by year
- 2026: 5 · 2025: 11 · 2024: 15 · 2023: 5 · 2022: 3 · 2021: 9 · 2020: 5 · 2019: 10 · 2018: 10 · 2017: 10 · 2016: 14 · 2015: 4 · 2014: 7 · 2013: 9 · 2012: 3
- FWCI
- 5.05
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (publishedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Funders
- Massachusetts General Hospital
- European Society for Paediatric Endocrinology
- Novo Nordisk
- Lastentautien Tutkimussäätiö
- National Institutes of Health
- U.S. Public Health Service (R01-46718-10)
- Canadian Institutes of Health Research
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K08 HD41512, K08HD041512)
- Canadian Arthritis Network
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- infantile cortical hyperostosis, Caffey disease, COL1A1, autosomal dominant inheritance, chromosome 17q21, Ehlers-Danlos syndrome type III, joint hyperlaxity, inguinal hernia, genetic linkage
- MeSH terms
- Collagen Type I, alpha 1 Chain, Bone and Bones, Chromosome Mapping, Chromosomes, Human, Pair 17, Female, Fibula, Haplotypes, Humans, Hyperostosis, Cortical, Congenital, Infant, Male, Mutation, Pedigree, Radiography, Tibia, Dermis, Collagen Type I
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