Fig. 6

Segregation analysis of family 2. A Sanger sequencing results for all family members of the c.4159del variant. B Sanger sequencing results for all family members of the c.3873+727A>G variant. C Illustration of the detected c.4159del and c.3873+727A>G variants of PTPRQ in IGV. Comparison of whole exome and whole genome data of the index patient