Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.

Abstract excerpt

INTRODUCTION: Osteopoikilosis is a rare and benign autosomal dominant genetic disorder, characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear membrane protein, as a cause of osteopoikilosis. METHODS: We investigated LEMD3...

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