Fig. 2
From: Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss
Sanger sequencing of the pathogenic variant. A Sanger sequencing chromatograms showing the c.2372del; p.(Ser791fs) variant in the homozygous state in affected individuals II:1, II:2, and II:3 compared with the heterozygous sequence in individuals I:1 and I:2 and an ethnic-matched normal hearing control. Arrows indicate the location of the variant. The reverse strand was sequenced. B Schematic representation of the PDZD7 protein. The novel variant c.2372del; p.(Ser791fs) identified in this study is red. The gray rectangle indicates the domains of the PDZD7 protein that are unique to the long isoform. Variants identified as Usher syndrome modifiers are denoted with *