Fig. 5

NGS and Sanger sequencing results of family 1. A Illustration of the detected c.6453+2dup and c.6602+81_6738+394delinsTTTATAAAATG variants of PTPRQ in IGV. Comparison of whole exome and whole genome data of the index patient, her affected brother and unaffected mother. B Validation of the c.6453+2dup variant by sanger sequencing (C) Validation of the breakpoint of the deletion and evidence of intronic insertion of a TTTATAAAATG stretch. In the second variant