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- W2400430617 abstract "In the course of genetic studies, we encountered a kindred with an autosomal dominant mutation resulting in a phenotype (high bone mass, HBM mutation) characterized by a marked increase in peak BMD 1,2 . The phenotype was caused by a missense mutation resulting in a G171V substitution in Lrp-5 2 . This report includes a description of the phenotype in affected individuals, and examines the phenotype in this kindred. This discovery offers interesting information about the function of genetic regulation of peak bone mass in humans. Polymorphisms in this gene may be responsible for some of the variation in BMD in the population at large 3 . The 18-year-old proband was referred by her orthopedist to the Creighton Osteoporosis Research Center (ORC) in 1995 for evaluation of unusually dense bones. The physical exam revealed excellent health. Radiographs of the entire skeleton on visual inspection revealed somewhat dense bones with thickened cortices. All bones of the skeleton were normally shaped. DXA examination of the mother, father and a male sib suggested that the proband inherited a high bone mass (HBM) trait from her mother. We identified and phenotyped 37 members of the kindred (three were phenotyped ante mortem) who were informative for study of linkage. The Creighton University Institutional Review Board approved the study. Each subject gave signed consent prior to participating in the project. The kindred was of mixed Caucasian (European) descent, largely English, having settled in the central plains, principally South Dakota. The pattern of inheritance of the HBM trait in this family is autosomal dominant. Clinical history" @default.
- W2400430617 created "2016-06-24" @default.
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- W2400430617 date "2008-10-01" @default.
- W2400430617 modified "2023-09-24" @default.
- W2400430617 title "Autosomal dominant high bone mass: the phenotype. A brief description." @default.
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