Fig. 1.

ZC3H14 is mutated in NS-ARID patients. (A) Pedigree of Family-1. (B) Schematic of four ZC3H14 splice variants indicating exons encoding the N-terminal PWI-like domain and C-terminal Cys₃His zinc-finger (ZnF) RNA binding motif (CCCH) domain. Positions of patient mutations are indicated by red stars. (C) Anti-ZC3H14 immunoblot of two control lymphoblast lines and one derived from a Family-1 R154X patient. The ZC3H14 antibody (5) recognizes ZC3H14 isoforms 1 and 2/3. Anti-PABPN1 is shown as a loading control (20). (D) Immunofluorescent detection of ZC3H14 (green) in control or patient (R154X) fibroblasts using a commercial ZC3H14 antibody (Abcam) directed against the common ZnF domain. DAPI (blue) marks nuclei. (Scale bar: 10 μm.)