Cited by 172Connective tissue disorders researchDermatological and Skeletal DisordersGenomics and Rare Diseases

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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

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Gensure, Robert C., Mäkitie, Outi, Barclay, Catherine, Chan, Catherine, DePalma, Steven R., Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Ala Kokko, Leena, Seidman, Jonathan G., Cole, William G., Jüppner, Harald·2005·Journal of Clinical Investigation

DOI 10.1172/jci22760

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Abstract

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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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: Mäkitie, Outi
DePalma, Steven R.
Bastepe, Murat
Couper, Richard
Mundlos, Stefan
Sillence, David
Seidman, Jonathan G.
Jüppner, Harald
Venue: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Published: 2005-05-02
Volume: 115
Issue: 5
Pages: 1250-1257
ISSN: 0021-9738 (ISSN-L)
DOI: 10.1172/jci22760
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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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

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