Figure 2.

Copy number variations from targeted next-generation sequencing in a patient with ocular albinism (P47). A 5-year-old male had nystagmus since early infant. His past medical history was significant for congenital hypothyroidism, developmental delay, intellectual disability, and ichthyosis. Dilated fundus examination showed depigmented fundi and multichannel visual evoked potential showed chiasmal misrouting: (A) Normalized depth analysis on GPR143 region showed a whole gene deletion of GPR143; (B) chromosomal copy number variations called by off-target analysis using CopywriteR version 2.9.0 showed absence of read depth on Xp22.3 (red arrow); (C) dry, thickened, scaly skin was noted; (D) ChrX:3,489,126_10,217,107 deletion was confirmed by array comparative genomic hybridization.