What is it about?
High bone mass is characterized by excess bone formation leading to thick and dense bones. We describe two previously unreported mutations in two genes leading to different forms of high bone mass. Although the two mutated proteins act through the same signaling pathway, the phenotypic severity and skeletal characteristics are very different.
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Why is it important?
Our patients depict how certain proteins have very different and diverse effects on skeletal development and health. This study also brings valuable information about the key clinical features associated with high bone mass disorders. We also describe two novel mutations that add to our existing genetic data on these disorders.
Perspectives
This study will hopefully bring valuable information about the clinical manifestations of high bone mass disorders and the peculiar traits associated with mutated LRP5 and AMER1. I hope this article also prompts the readers' interest in molecular and genetic factors regulating bone development and health.
Riikka Mäkitie
Klassillis-filologinen yhdistys ry
Read the Original
This page is a summary of: High bone mass due to novel LRP5 and AMER1 mutations, European Journal of Medical Genetics, December 2017, Elsevier,
DOI: 10.1016/j.ejmg.2017.09.001.
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