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

Datos Bibliográficos

ID12371698
AutoresD Lombardo (0000-0002-4066-1343, CHRU Lille Université de Lille Lille France, autor de correspondencia), A Modi (0000-0001-9514-9868, Laboratory of Anthropology, Department of Biology University of Florence Florence Italy), Chiara Vergata (0000-0003-2727-7977, Laboratory of Anthropology, Department of Biology University of Florence Florence Italy), David Caramelli (0000-0001-6468-1675, Laboratory of Anthropology, Department of Biology University of Florence Florence Italy), Tristan Pascart (0000-0002-8395-826X, Rheumatology department Lille Catholic Hospital, and University of Lille 2 Lille France), B Bertrand (0000-0001-7640-6929, CHRU Lille Université de Lille Lille France), Annalisa Vetro (0000-0003-2437-7526, Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories Meyer Children's Hospital, University of Florence Florence Italy), Martina Lari (0000-0002-7832-8212, Laboratory of Anthropology, Department of Biology University of Florence Florence Italy), T Colard (0000-0002-2235-6759, Centre National de la Recherche Scientifique)
Año2019
Volumen29
Número5
Páginas854-859
Fecha de publicación2019-05-18
Peer ReviewedSí
Open AccessSí
TipoARTICLE
RevistaInternational Journal of Osteoarchaeology (JOURNAL)
Identificadores de la revistaISSN: 1047-482X • E-ISSN: 1099-1212
EditorialWiley (PUBLISHER • GB)
DOI10.1002/oa.2772
OpenAlexW2946000525
IdiomaEN
Citas recibidas2
Referencias citadas20

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

Ancient DNA · Biology · Disease · Girl · Hyperostosis · Osteology · Paleopathology · Pathology · Rare disease · Forensic Anthropology and Bioarchaeology Studies · Medicine · Osteomyelitis and Bone Disorders Research · Yersinia bacterium, plague, ectoparasites research · Anatomy · Genetics