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Background Oculocutaneous albinism (OCA) is a group of heterogeneous genetic diseases characterized by a reduction or complete lack of pigmentation in the hair, skin, and eyes. It is associated with reduced visual acuity, nystagmus, photophobia, and strabismus. OCA type 1 (OCA1) and type 2 (OCA2) are caused by mutations in the tyrosinase ( TYR ) and  OCA2  genes, which are responsible for most cases of OCA. The present study aimed to identify the mutational spectra of 18 southwest Chinese probands with OCA. Results We used a skin disease-targeted panel to sequence more than 400 genes, including 23 genes ( TYR ,  OCA2 ,  AP3B1 ,  BLOC1S3 ,  BLOC1S6 ,  C10orf11 ,  DTNBP1 ,  FRMD7 ,  GPR143 ,  HPS1 ,  HPS3 ,  HPS4 ,  HPS5 ,  HPS6 ,  LYST ,  MC1R ,  MITF ,  MLPH ,  MYO5A ,  RAB27A ,  SLC24A5 ,  SLC45A2 ,  TYRP1 ) associated with syndromic and non-syndromic albinism. The targeted panel was applied to 18 patients from southwest China, nine (50%) patients were diagnosed with OCA1, and nine (50%) were diagnosed with OCA2. Our data indicate that OCA1 and OCA2, the most common subtypes, probably have the same prevalence in southwest China. In total, we identified 26 variants in  TYR  and  OCA2  from 18 OCA cases using the NGS technology, including 24 variants presented in the Human Gene Mutation Database Professional (HGMD) and two novel variants, c.559_560insCATTATTATGTGTCAAATTATCCCC in  TYR  and c.1514 T &gt; C in  OCA2 , which have not been previously reported. According to the American College of Medical Genetics and Genomics (ACMG) classification, c.559_560insCATTATTATGTGTCAAATTATCCCC (p.G190Cfs*12) is classified as a pathogenic variant, and c.1514 T &gt; C (p.F505S) is evaluated as a likely pathogenic variant. Conclusions Two novel variants were identified which will expand the mutational spectra of  TYR  and  OCA2 . The results of the present study may have implications for genetic counseling, carrier screening, and clinical management of the disease.

NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism