Skeletal abnormalities caused by a Connexin43_R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.

ABSTRACT: Craniometaphyseal dysplasia (CMD), a rare craniotubular disorder, occurs in an autosomal dominant (AD) or autosomal recessive (AR) form. CMD is characterized by hyperostosis of craniofacial bones and flaring metaphyses of long bones. Many patients with CMD suffer from neurological symptoms. To date, the pathogenesis of CMD is not fully understood. Treatment is limited to decompression surgery. Here, we report a knock in (KI) mouse model for AR CMD carrying a R239Q mutation in CX43. Cx43^KI/KI mice replicate many features of AR CMD in craniofacial and long bones. In contrast to Cx43^+/+ littermates, Cx43^KI/KI mice exhibit periosteal bone deposition and increased osteoclast (OC) numbers in the endosteum of long bones, leading

SUBMITTER: Fujii Y 

PROVIDER: S-EPMC10889043 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature