Delineating the genetic heterogeneity of OCA in Hungarian patients
Abstract Background Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated O...
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doaj-bb51dfc20d624efebb356ce4b7cc99182020-11-25T02:32:52ZengBMCEuropean Journal of Medical Research2047-783X2017-06-012211810.1186/s40001-017-0262-0Delineating the genetic heterogeneity of OCA in Hungarian patientsBeáta Fábos0Katalin Farkas1Lola Tóth2Adrienn Sulák3Kornélia Tripolszki4Mariann Tihanyi5Réka Németh6Krisztina Vas7Zsanett Csoma8Lajos Kemény9Márta Széll10Nikoletta Nagy11Mór Kaposi Teaching Hospital of the Somogy CountyMTA-SZTE Dermatological Research Group, University of SzegedDepartment of Medical Genetics, University of SzegedDepartment of Medical Genetics, University of SzegedDepartment of Medical Genetics, University of SzegedGenetic Laboratory, Hospital of Zala CountyDepartment of Dermatology and Allergology, University of SzegedDepartment of Dermatology and Allergology, University of SzegedDepartment of Dermatology and Allergology, University of SzegedMTA-SZTE Dermatological Research Group, University of SzegedMTA-SZTE Dermatological Research Group, University of SzegedMTA-SZTE Dermatological Research Group, University of SzegedAbstract Background Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1–7). Methods The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. We aimed to investigate genes responsible for the development of these OCA forms in Hungarian OCA patients (n = 13). Mutation screening and polymorphism analysis were performed by direct sequencing on TYR, OCA2, SLC45A2 genes. Results Although the clinical features of the investigated Hungarian OCA patients were identical, the molecular genetic data suggested OCA1 subtype in eight cases and OCA4 subtype in two cases. The molecular diagnosis was not clearly identifiable in three cases. In four patients, two different heterozygous known pathogenic or predicted to be pathogenic mutations were present. Seven patients had only one pathogenic mutation, which was associated with non-pathogenic variants in six cases. In two patients no pathogenic mutation was identified. Conclusions Our results suggest that the concomitant screening of the non-pathogenic variants—which alone do not cause the development of OCA, but might have clinical significance in association with a pathogenic variant—is important. Our results also show significant variation in the disease spectrum compared to other populations. These data also confirm that the concomitant analysis of OCA genes is critical, providing new insights to the phenotypic diversity of OCA and expanding the mutation spectrum of OCA genes in Hungarian patients.http://link.springer.com/article/10.1186/s40001-017-0262-0Oculocutaneous albinismConcomitant analysisTYR geneSLC45A2 geneOCA2 gene |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Beáta Fábos Katalin Farkas Lola Tóth Adrienn Sulák Kornélia Tripolszki Mariann Tihanyi Réka Németh Krisztina Vas Zsanett Csoma Lajos Kemény Márta Széll Nikoletta Nagy |
spellingShingle |
Beáta Fábos Katalin Farkas Lola Tóth Adrienn Sulák Kornélia Tripolszki Mariann Tihanyi Réka Németh Krisztina Vas Zsanett Csoma Lajos Kemény Márta Széll Nikoletta Nagy Delineating the genetic heterogeneity of OCA in Hungarian patients European Journal of Medical Research Oculocutaneous albinism Concomitant analysis TYR gene SLC45A2 gene OCA2 gene |
author_facet |
Beáta Fábos Katalin Farkas Lola Tóth Adrienn Sulák Kornélia Tripolszki Mariann Tihanyi Réka Németh Krisztina Vas Zsanett Csoma Lajos Kemény Márta Széll Nikoletta Nagy |
author_sort |
Beáta Fábos |
title |
Delineating the genetic heterogeneity of OCA in Hungarian patients |
title_short |
Delineating the genetic heterogeneity of OCA in Hungarian patients |
title_full |
Delineating the genetic heterogeneity of OCA in Hungarian patients |
title_fullStr |
Delineating the genetic heterogeneity of OCA in Hungarian patients |
title_full_unstemmed |
Delineating the genetic heterogeneity of OCA in Hungarian patients |
title_sort |
delineating the genetic heterogeneity of oca in hungarian patients |
publisher |
BMC |
series |
European Journal of Medical Research |
issn |
2047-783X |
publishDate |
2017-06-01 |
description |
Abstract Background Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1–7). Methods The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. We aimed to investigate genes responsible for the development of these OCA forms in Hungarian OCA patients (n = 13). Mutation screening and polymorphism analysis were performed by direct sequencing on TYR, OCA2, SLC45A2 genes. Results Although the clinical features of the investigated Hungarian OCA patients were identical, the molecular genetic data suggested OCA1 subtype in eight cases and OCA4 subtype in two cases. The molecular diagnosis was not clearly identifiable in three cases. In four patients, two different heterozygous known pathogenic or predicted to be pathogenic mutations were present. Seven patients had only one pathogenic mutation, which was associated with non-pathogenic variants in six cases. In two patients no pathogenic mutation was identified. Conclusions Our results suggest that the concomitant screening of the non-pathogenic variants—which alone do not cause the development of OCA, but might have clinical significance in association with a pathogenic variant—is important. Our results also show significant variation in the disease spectrum compared to other populations. These data also confirm that the concomitant analysis of OCA genes is critical, providing new insights to the phenotypic diversity of OCA and expanding the mutation spectrum of OCA genes in Hungarian patients. |
topic |
Oculocutaneous albinism Concomitant analysis TYR gene SLC45A2 gene OCA2 gene |
url |
http://link.springer.com/article/10.1186/s40001-017-0262-0 |
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