Table 1.
Summary of cases in this study.
Table 2.
Variants identified in genes not specifically associated with the corresponding disease.
Fig 1.
Retina features of patient 1 and 3.
The retinal examination of patient 1 showed moderate diffuse pallor of each optic disc, moderate vascular attenuation, the dusky depigmentation of the retinal periphery, and small flecks of pigment migration into the retina, especially in the nasal hemispheres, all evidence of a widespread rod and cone dystrophy. (B) The retinal examination of patient 3 revealed slight diffuse pallor of each optic nerve, moderate attenuation of the retinal vasculature, and diffuse perimacular depigmentation with bone spicule pigment migration into the retina, especially in the nasal hemispheres, all evidence of a widespread rod and cone dystrophy.
Fig 2.
Detection of heterozygous NPHP1 whole gene deletion in patient 5.
(A) The ratio of normalized mean NGS coverage of individual coding exon of CNGA3, a gene on the same chromosome with NPHP1, and NPHP1, to that of the reference was plotted against the exon number. The normalization NGS coverage depth ratios of all exons of NPHP1 are about 0.5, indicating heterozygous deletion. (B) The aCGH confirmation of the heterozygous NPHP1 whole gene deletion. Log2 ratios of most probes on NPHP1 gene are -1, suggesting heterozygous whole gene deletion.