Figure 1

Segregation analysis of families identified with USH2A deletions/duplications and USH2A : c.7595-2144A>G. A. Six families were found to have deletions/duplications that segregated in trans with a previously identified USH2A pathogenic variant [7]. Variants shown in all families are in USH2A. All family members were genotyped for USH2A deletions/duplications by MLPA. B. Three families were found to have the pathogenic variant USH2A: c.7595-2144A>G. All available family members were genotyped for this variant. Family 128 displayed an atypical phenotype. All three affected siblings were heterozygous for the variant and otherwise were genotypically identical for markers within USH2A (see Additional file 5). In this family the second USH2A pathogenic mutation is unknown, despite complete sequencing of nine Usher genes, MLPA analysis for USH2A deletions/duplications and massive parallel sequencing of CIB2 and 60 genes for non-syndromic hearing loss. In addition the proband has also undergone exome sequencing and no likely disease-causing variants have been found in RP-associated genes. The two remaining families displayed typical USH2. In family 24 USH2A: c.7595-2144A>G segregated in trans with an already identified USH2A pathogenic variant [7]. Phase is unknown for family 707. Variants shown in all families are in USH2A.