Fig. 4

Identification of a missense mutation in PIEZO2 in affected members of Family 2. a The novel mutation c.8153G > A (p.R2718Q) in PIEZO2 verified by Sanger sequencing. b PCR-RFLP findings with Taq I indicate two DNA fragments in affected patients (II2, III1, II5, and I1; 104 bp and 70 bp) but not in unaffected family members. c Multiple-species sequence alignment shows the evolutionary conservation of position p.R718 in PIEZO2. d The schematic of PIEZO2 mutation spectrum on functional module. Mutation-related diseases are exhibited in different literal colors