Figure 1.

NGS-based SNP haplotyping for NSHL diagnosis. Gray and blue represented pathogenic and normal haplotype of the mother, respectively. Pink and dark orange represented pathogenic and normal haplotype of the father, respectively. The arrow indicated the proband that represented the daughter of the couple affected by non-syndromic sensorineural hearing loss. Gene mutation sites were marked in red. Allele drop-out sites were marked in yellow. Embryo 7 was genotypically normal, embryo 3 demonstrated a carrier pattern and embryos 1 and 9 were affected. Embryo 4 was diagnosed as monosomic. Paternal recombination occurred in embryo 10 (marked in purple). NSHL, non-syndromic hearing loss; NGS, next generation sequencing; SNP, single nucleotide polymorphism; E, embryo; ?, site was not detected.