Figure 1: Clinical features of Möbius syndrome patients and de novo mutations in PLXND1 and REV3L.
From: De novo mutations in PLXND1 and REV3L cause Möbius syndrome
(a) Clinical features of the patients carrying the mutations in PLXND1 (P1, P9 and P10). Patient P1 shows an impairment of ocular abduction in a relaxed facial position; she is not able to smile and she cannot close her eyes completely. Patient P9 in a relaxed facial position presents left upper facial paralysis. Patient P10 showing bilateral facial paralysis, inability to close his mouth and lagophthalmos. (b) Genomic structure of the PLXND1 gene and the PLXND1 protein structure and the position of de novo mutations. The different protein domains are depicted. GAP, GTPase-activating protein; IPT/TIG, immunoglobulin-like fold, plexins, transcription factors/transcription factor immunoglobin; D1-PBM, PDZ-binding motif; MET, mesenchymal–epithelial transition. (c) Clinical features of the patients carrying the mutations in REV3L (P5, P11 and P12). Patient P5 in a relaxed position, showing the characteristic inability of MBS patients to smile in the second photograph. Both eyes show incomplete closure. There is agenesis of the left pectoralis muscle (Poland variant) and absence of digits from the left hand. Patient P11 has both eyes fixed in straight position and a complete deficiency of both abduction and adduction. There is a complete inability to follow objects laterally. Furthermore, a bilateral facial nerve palsy is present producing a lagophthalmos on eye closure in both eyes, and oral rim asymmetry with an inability to smile. Patient P12 in a relaxed facial position. The ability to smile of P12 has been improved following plastic surgery at age of 13 years. Inappropriate closure of both eyes is still present. (d) Schematic structure of human REV3L gene (left) and REV3L protein (right). MBS-associated mutations detected in three patients (P5, P11 and P12) are indicated. The coloured bands represent the known domains of the protein. Rev7-binding domain, site of binding of the heterodimeric Rev3l partner Rev7; ZF, zinc finger.
