Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism

Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much 20 out 25 patients, variants explaining their phenotype were identified. The great majority (15/25) had TYR gene associated type 1, followed by TYRP1, SLC45A2 HPS1 genes causative for OCA3, OCA4 Hermansky-Pudlak syndrome respectively. We concluded that could not predict genotype vice versa. Nevertheless, diagnostic yield after targeted next generation sequencing (NGS) 80% proved be affective our various degree OCA. Even 16 normal complexion 62,5%. Interestingly, we have identified patient white European ancestry which extremely rare report, one due 1.