15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

Oral-facial-digital syndromes (OFDS) are rare genetic disorders characterized by the association of abnormalities of the face, oral cavity and extremities. Molecular bases were poorly known but we suspected the involvement of ciliary genes. Using whole-exome sequencing in 24 OFDS cases, we identified causal variants in five new genes, two genes previously implicated in OFDS and four genes previously related to other ciliopathies. Functional studies revealed the involvement of several structural or functional defects of primary cilia (centrosome, transition zone, intraflagellar transport), and characterized three ciliary protein complexes. (By Dr. Ange-Line Bruel, http://jmg.bmj.com/content/early/2017/03/12/jmedgenet-2016-104436 )