Discovery Unravels Mystery of Rare Bone Disease

Researchers pinpoint gene causing autosomal dominant spondyloepiphyseal dysplasia

A McGill University-led team of researchers has made an important discovery shedding light on the genetic basis of a rare skeletal disorder. The study, published November 3, 2023 in Nature Communications, reveals that a defect in a specific gene (heterozygous variants in the matrix Gla protein, or MGP) can cause a disorder that affects the structure of connective tissues that supports the body. The open-access article is titled “Specific Heterozygous Variants in MGP Lead to Endoplasmic Reticulum Stress and Cause Spondyloepiphyseal Dysplasia.”
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