Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation.

ABSTRACT:

Context

Most heritable causes of low bone mass in children occur due to mutations affecting type 1 collagen. We describe two related patients with low bone mass and fracture without mutations in the type 1 collagen genes.

Case description

We describe the index case of a 10-year-old girl with low-impact fractures in childhood and her 59-year-old father with traumatic fractures in adulthood, both with low bone mineral density. They were found to have the same heterozygous missense mutation in the WNT1 gene (p.Gly222Arg), occurring in a highly conserved WNT motif in close proximity to the Frizzled binding site.

Conclusions

The WNT-ligand WNT1, signaling through the canonical WNT-β-catenin pathway, plays a critical role in skeletal development, adult skeletal homeostasis,

SUBMITTER: Ang K 

PROVIDER: S-EPMC6197702 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature