Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature

Kitaoka, Taichi; Miyoshi, Yoko; Namba, Noriyuki; Miura, Kouji; Kubota, Takuo; Ohata, Yasuhisa; Fujiwara, M.; Takagi, Masaki; Hasegawa, Tomonobu; Jüppner, Harald; Ozono, Keiichi

doi:10.1007/s00431-013-2252-8

Cited by 10 publications

(4 citation statements)

References 19 publications

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“…CMO is clinically equivalent to human infantile cortical hyperostosis [ 10 , 15 ]. A common missense variant in COL1A1 has been found in several patients with an autosomal dominant condition with incomplete penetrance [ 16 , 17 ]. Interestingly, the mechanism how the defected collagen leads to self-limiting hyperostotic bone lesions is still unknown.…”

Section: Discussionmentioning

confidence: 99%

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

et al. 2016

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One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials. We performed various experiments, e.g. combined genome-wide association and next generation sequencing, to investigate the clinico-pathological features and genetic causes of three developmental syndromes in dogs, including craniomandibular osteopathy (CMO), a previously undescribed skeletal syndrome, and dental hypomineralization, for which we identified pathogenic variants in the canine SLC37A2 (truncating splicing enhancer variant), SCARF2 (truncating 2-bp deletion) and FAM20C (missense variant) genes, respectively. CMO is a clinical equivalent to an infantile cortical hyperostosis (Caffey disease), for which SLC37A2 is a new candidate gene. SLC37A2 is a poorly characterized member of a glucose-phosphate transporter family without previous disease associations. It is expressed in many tissues, including cells of the macrophage lineage, e.g. osteoclasts, and suggests a disease mechanism, in which an impaired glucose homeostasis in osteoclasts compromises their function in the developing bone, leading to hyperostosis. Mutations in SCARF2 and FAM20C have been associated with the human van den Ende-Gupta and Raine syndromes that include numerous features similar to the affected dogs. Given the growing interest in the molecular characterization and treatment of human rare diseases, our study presents three novel physiologically relevant models for further research and therapy approaches, while providing the molecular identity for the canine conditions.

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Section: Discussionmentioning

confidence: 99%

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

et al. 2016

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“…We can therefore confidently state that the S185 individual presented only the wild‐type allele at the c.3040 position, and the etiological cause of the disease in our sample patient could not be proved with certainty. However, genetic heterogeneity of ICH has already been suggested in living patients (Gensure et al, ; Kitaoka et al, ), although no other candidate ICH genes have been identified to date. For this reason, we cannot exclude a diagnosis of ICH on the basis of the molecular results.…”

Section: Discussionmentioning

confidence: 99%

Microcomputed tomography and genetic analysis of a rare case of Caffey's disease in a 5–7‐month‐old girl

Lombardo

Modi

Vergata

et al. 2019

Intl J of Osteoarchaeology

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Ancient human remains provided precious information about the health and disease of individuals from the past. Usually, diagnosis and assessment of the paleopathological remains were performed using RX analysis, tomography, and histology. However, thanks to the progress in ancient DNA recovery and sequencing, genetic information can used to support the diagnoses performed using classical approach. Here, we described the paleopathological remains of a 5 to 7‐month infant, excavated from Saint‐Jacques church (Douai, France), dated from 16th to 18th century. The skeleton displayed bone lesions, consisting in a massive corticoperiosteal thickening with subperiosteal new bone formation. To investigate the pathological condition of the remains, we applied a combined approach using both microcomputed tomography and paleogenetic analysis. Among several pathologies, we proposed a potential diagnosis of Caffey's disease (Infantile Cortical Hyperostosis, ICH), a rare genetic infantile pathology that causes a massive subperiosteal new bone formation in some diagnostic skeletal districts. Association of the disease with the COL1A1 gene on chromosome 17q21 has been highlighted in several familial cases, whereas other evidences suggest genetic heterogeneity of ICH. Although the osteological clinical picture was compatible with Caffey's disease, we did not find evidence of the mutated allele in COL1A1 gene, suggesting a diagnosis of ICH caused by a different genetic mutation. Our study represents one of the first documented historical case of Caffey's disease and highlights the contribution of paleopathological studies for a better knowledge of human diseases.

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“…This finding places ICH within the group of type 1 collagen-related conditions, such as osteogenesis imperfecta and Ehlers-Danlos syndrome. 5 Following this report, patients with ICH expressing the COL1A1 mutation were reported worldwide, [6][7][8][9][10][11] and even one lethal prenatal genetic case of ICH was described. 12 Interestingly, in several ICH patients, this previously known mutation in COL1A1 was not identified nor were other novel mutations found for this gene.…”

Section: Introductionmentioning

confidence: 88%

“…12 Interestingly, in several ICH patients, this previously known mutation in COL1A1 was not identified nor were other novel mutations found for this gene. 4,11 Some cases of ICH were suggested to be sporadic rather than genetic and were thought to differ from the familial form, as can sometimes be attributed to exposure to prostaglandin E1 and prostaglandin E2. 13,14 It was also hypothesized that ICH might have an autosomal-recessive inheritance form [15][16][17] ; nevertheless, no specific mutation has so far been described.…”

Section: Introductionmentioning

confidence: 99%

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)

et al. 2019

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Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature

Abstract: The results reveal that Caffey disease is genetically heterogeneous and that affected and unaffected adult patients with or without the common COL1A1 mutation have normal bone mineral density.

Cited by 10 publications

References 19 publications

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

Microcomputed tomography and genetic analysis of a rare case of Caffey's disease in a 5–7‐month‐old girl

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)

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