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 metaphyseal flaring of long bones. Many patients with CMD suffer from neurological symptoms. The pathogenesis of CMD is not fully understood. Treatment is limited to craniofacial surgery. Here, we report a knock in (KI) mouse model for AR CMD carrying a Cx43_R239Q mutation. Cx43^KI/KI mice replicate typical features of AR CMD, including thickening of craniofacial bones, club-shaped femurs, and widened diaphyseal cortical bones. Female Cx43^KI/KI mice display remarkably more bone overgrowth than male Cx43^KI/KI mice as they age. In contrast to Cx43^+/

SUBMITTER: Fujii Y 

PROVIDER: S-EPMC11757998 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature