High Bone Mass From Mutation Of Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6)

BRANCE ML; BRUN LR; CÓCCARO N; ARAVENA A; DUAN S; MUMM S; WHYTE MP

BONE

ELSEVIER SCIENCE INC

Lugar: Amsterdam; Año: 2020 vol. 141

8756-3282

nt/β-catenin signaling is important for skeletal development and health. Eleven heterozygous gain-of-function missense mutations within the first β-propeller of low-density lipoprotein receptor-related protein 5 (LRP5) are known to cause the autosomal dominant disorder called high bone mass (HBM). In 2019, the HBM phenotype was identified in two American families harboring different heterozygous LRP6 missense mutations. We report a 19-year-old Argentinian man referred for ?osteopetrosis? and nine years of generalized, medium-intensity bone pain and arthralgias of both knees. His jaw and nasal bridge were broad and several teeth were missing. Routine biochemical testing, including of mineral homeostasis, was normal. Urinary deoxypyridinoline and serum CTX were slightly increased. Radiographic skeletal survey showed diffusely increased radiodensity. DXA revealed substantially elevated BMD Z-scores. Digital orthopantomography confirmed agenesis of his maxillary and mandibular l