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Dental and craniofacial defects in the Crtap −/− mouse model of osteogenesis imperfecta type VII
Author(s) -
Xu He,
Lenhart Sydney A.,
Chu Emily Y.,
Chavez Michael B.,
Wimer Helen F.,
Dimori Milena,
Somerman Martha J.,
Morello Roy,
Foster Brian L.,
Hatch Nan E.
Publication year - 2020
Publication title -
developmental dynamics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.634
H-Index - 141
eISSN - 1097-0177
pISSN - 1058-8388
DOI - 10.1002/dvdy.166
Subject(s) - craniofacial , cementum , osteogenesis imperfecta , dental alveolus , periodontal fiber , skull , anatomy , dentinogenesis imperfecta , mandibular symphysis , pathology , biology , medicine , dentistry , dentin , genetics
Abstract Background Inactivating mutations in the gene for cartilage‐associated protein (CRTAP) cause osteogenesis imperfecta type VII in humans, with a phenotype that can include craniofacial defects. Dental and craniofacial manifestations have not been a focus of case reports to date. We analyzed the craniofacial and dental phenotype of Crtap −/− mice by skull measurements, micro‐computed tomography (micro‐CT), histology, and immunohistochemistry. Results Crtap −/− mice exhibited a brachycephalic skull shape with fusion of the nasofrontal suture and facial bones, resulting in mid‐face retrusion and a class III dental malocclusion. Loss of CRTAP also resulted in decreased dentin volume and decreased cellular cementum volume, though acellular cementum thickness was increased. Periodontal dysfunction was revealed by decreased alveolar bone volume and mineral density, increased periodontal ligament (PDL) space, ectopic calcification within the PDL, bone‐tooth ankylosis, altered immunostaining of extracellular matrix proteins in bone and PDL, increased pSMAD5, and more numerous osteoclasts on alveolar bone surfaces. Conclusions Crtap −/− mice serve as a useful model of the dental and craniofacial abnormalities seen in individuals with osteogenesis imperfecta type VII.