Next-generation sequencing identifies mutations in Lrp2 as a cause for syndromic craniosynostosis

Abstract

Background and objectives: The premature fusion of one or more cranial sutures has been coined as craniosynostosis, a condition, which is commonly associated with a wide spectrum of clinically overlapping phenotypes. Heterozygous gain-of-function mutations frequently found in FGFR2 have been attributed to various forms of craniosynostosis including Apert-, Pfeiffer- and Crouzon syndrome. However, a relatively large subset of these patients remains FGFR2 mutation negative, thus strongly suggesting genetic heterogeneity.