Figure 3

Dual diagnosis of Usher and Koolen de Vries syndromes in case index of family RP-0485 by targeted NGS and array–based comparative genomic hybridization (aCGH) (A). Pedigree and segregation analysis for genetic findings showed a recessive inheritance for biallelic pathogenic USH2A variants and a de novo CNV. Genotype of each available family member is represented below the individual symbol being “ + ” normal allele, and “m1, m2, and m3”, mutated alleles. Electropherograms of heterozygous carrier and wild-type individual for USH2A variants in exons 11 and 63 were also shown (B). Genomic rearrangement on 17q21.31 region identified in by aCGH. Chromosome and gene views of the affected chromosome show an aberrant deletion of minimum size of 721Kb (genomic coordinates: chr17:43,417,434-44,138,572) and maximum ~1,4 Mb (chr17:43,398,423-44,841,644), which is highlighted in dark and light red colour, respectively. An abnormal pattern of one copy was observed for 80 probes covering 16 genes (ARHGAP27, PLEKHM1, MIR4315-1, MIR4315-2, LRRC37A4, LOC101929001, DND1P1, LOC644172, RPS26P8, CRHR1, MGC57346, SPPL2C, MAPT, MAPT-IT1, STH, KANSL1). The vertical axis shows the position along the genome (hg19) and the horizontal axis the log2 intensity ratio values (−2/−1: deletions, 0: normal pattern, + 1/ + 2: duplications).