280 KB44 KB199820252021Battelino, TadejBertok, SaraDebeljak, MarušaHovnik, TinkaStirn-Kranjc, BrankaTekavčič Pompe, MancaTrebušak Podkrajšek, Katarinaštevilka:3str. 683-692letnik:vol 68DOI:10.17344/acsi.2021.6690ISSN:1318-0207COBISSID_HOST:72365315URN:URN:NBN:SI:doc-NXGSF6JVenSlovenian Chemical SocietySlovensko kemijsko društvoActa chimica slovenicagenetska variabilnostHermansky-Pudlakov sindrom tipa 1okulokontaktni albinizemsekvenciranje naslednje generacijeGenetic 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 and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much as 20 out of 25 patients, genetic variants explaining their clinical phenotype were identified. The great majority of patients (15/25) had genetic variants in TYR gene associated with OCA type 1, followed by variants in TYRP1, SLC45A2 and HPS1 genes causative for OCA3, OCA4 and Hermansky-Pudlak syndrome type 1, respectively. We concluded that OCA phenotype could not predict genotype and vice versa. Nevertheless, the diagnostic yield after targeted next generation sequencing (NGS) was 80% and proved to be affective in our paediatric cohort of patients with various degree of OCA. Even in 16 patients with normal complexion the diagnostic yield was 62,5%. Interestingly, we have identified a patient of white European ancestry with OCA3, which is an extremely rare report, and one patient with OCA due to the Hermansky-Pudlak syndrome type 1TEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaSlovensko kemijsko društvo