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 and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much as 20...
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doaj-da104f3495fd4205ab2d9b0e7b4a45282021-09-30T07:59:01ZengSlovenian Chemical SocietyActa Chimica Slovenica1318-02071580-31552021-09-0168368369210.17344/acsi.2021.6690989Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous AlbinismTinka Hovnik0Maruša Debeljak1Manca Tekavčič Pompe2Sara Bertok3Tadej Battelino4Brabka Stirn Kranjc5Katarina Trebušak Podkrajšek6University Medical Centre Ljubljana, University Children’s Hospital Clinical Institute for special laboratory diagnosticsUniversity Medical Centre Ljubljana, University Children’s Hospital Clinical Institute for special laboratory diagnosticsUniversity Medical Centre Ljubljana, Eye HospitalUniversity Medical Centre Ljubljana, University Children’s Hospital Department of Pediatric Endocrinology, Diabetes and Metabolic DiseasesUniversity Medical Centre Ljubljana, University Children’s Hospital Department of Pediatric Endocrinology, Diabetes and Metabolic DiseasesUniversity Medical Centre Ljubljana, Eye HospitalUniversity of Ljubljana, Faculty of Medicine Institute of Biochemistry and Molecular GeneticsOculocutaneous 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.https://journals.matheo.si/index.php/ACSi/article/view/6690oculocutaneous albinismhermansky-pudlak syndrome type 1next generation sequencinggenetic variant |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Tinka Hovnik Maruša Debeljak Manca Tekavčič Pompe Sara Bertok Tadej Battelino Brabka Stirn Kranjc Katarina Trebušak Podkrajšek |
spellingShingle |
Tinka Hovnik Maruša Debeljak Manca Tekavčič Pompe Sara Bertok Tadej Battelino Brabka Stirn Kranjc Katarina Trebušak Podkrajšek Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism Acta Chimica Slovenica oculocutaneous albinism hermansky-pudlak syndrome type 1 next generation sequencing genetic variant |
author_facet |
Tinka Hovnik Maruša Debeljak Manca Tekavčič Pompe Sara Bertok Tadej Battelino Brabka Stirn Kranjc Katarina Trebušak Podkrajšek |
author_sort |
Tinka Hovnik |
title |
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism |
title_short |
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism |
title_full |
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism |
title_fullStr |
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism |
title_full_unstemmed |
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism |
title_sort |
genetic variability in slovenian cohort of patients with oculocutaneous albinism |
publisher |
Slovenian Chemical Society |
series |
Acta Chimica Slovenica |
issn |
1318-0207 1580-3155 |
publishDate |
2021-09-01 |
description |
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. |
topic |
oculocutaneous albinism hermansky-pudlak syndrome type 1 next generation sequencing genetic variant |
url |
https://journals.matheo.si/index.php/ACSi/article/view/6690 |
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