Fig. 1

TJP2 mutations analysis of the family. The proband carried compound heterozygous mutations c.2448 + 1G > C/c.2639delC (p.T880Sfs*12) of TJP2 (a, b), c.2448 + 1G > C inherited from her mother (c, d), and c.2639delC (p.T880Sfs*12) from her father (e, f)