Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement

Craniosynostosis (CRS) is premature closure of cranial sutures, which is caused by either a gene mutation or environmental factors or both. Herein we found a gene mutation causing midline non-syndromic craniosynostosis in a 15-month-old boy. Conventional chromosome study revealed a complex paracentric inversion involving 2q14.3 and 2q34, and multicolor banding refined breakpoints to 2q14 and 2q34. An intronic break of the PTH2R gene was detected by whole genome sequencing and fluorescence in situ hybridization analysis finally confirmed disruption of PTH2R. This addition of PTH2R to the list of genes associated with CRS expands our understanding of the development of CRS. (By Dr. Juwon Kim, http://jmg.bmj.com/content/early/2015/06/04/jmedgenet-2015-103001 )