hrp0092rfc6.1 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

EFTUD2 Gene Deficiency Disturbs Maturation of Osteoblast and Inhibits Chondrocyte Differentiation via Activated p53 Signaling

Wu Jing , Yang Yi , He You , Li Qiang , Wang Xu , Sun Chengjun , Wang Lishun , An Yu , Luo Feihong

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia and short stature. Loss of function mutations of EFTUD2 were previously reported in MFDM, however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear. Here, we identified a novel frameshift mutation of EFTUD2 in a MFDM Chinese patient...