Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism
| Autor: | Maruša Debeljak, Manca Tekavčič Pompe, Sara Bertok, Tadej Battelino, Brabka Stirn Kranjc, Tinka Hovnik, Katarina Trebušak Podkrajšek |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male genetic variant medicine.medical_specialty SLC45A2 Adolescent Slovenia Cohort Studies Young Adult Genotype Humans Medicine Genetic Testing TYRP1 Genetic variability Child QD1-999 General Environmental Science next generation sequencing biology business.industry Genetic variants Genetic Variation High-Throughput Nucleotide Sequencing medicine.disease Oculocutaneous albinism Dermatology Phenotype eye diseases Chemistry Albinism Oculocutaneous hermansky-pudlak syndrome type 1 Child Preschool Cohort biology.protein General Earth and Planetary Sciences Female business oculocutaneous albinism |
| Zdroj: | Acta Chimica Slovenica, Vol 68, Iss 3, Pp 683-692 (2021) |
| ISSN: | 1580-3155 |
| Popis: | 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 1. |
| Databáze: | OpenAIRE |
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