Delineating the genetic heterogeneity of OCA in Hungarian patients

Beáta Fábos, Katalin Farkas, Lola Tóth, Adrienn Sulák, Kornélia Tripolszki, Mariann Tihanyi, Réka Németh, Krisztina Vas, Zsanett Csoma, L. Kemény, M. Széll, N. Nagy

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Article number20
JournalEuropean Journal of Medical Research
Volume22
Issue number1
DOIs
Publication statusPublished - Jun 19 2017

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Oculocutaneous Albinism
Genetic Heterogeneity
Mutation
Genes
Hypopigmentation
Pigmentation
Human Chromosomes
Hair
Molecular Biology

Keywords

  • Concomitant analysis
  • OCA2 gene
  • Oculocutaneous albinism
  • SLC45A2 gene
  • TYR gene

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Delineating the genetic heterogeneity of OCA in Hungarian patients. / Fábos, Beáta; Farkas, Katalin; Tóth, Lola; Sulák, Adrienn; Tripolszki, Kornélia; Tihanyi, Mariann; Németh, Réka; Vas, Krisztina; Csoma, Zsanett; Kemény, L.; Széll, M.; Nagy, N.

In: European Journal of Medical Research, Vol. 22, No. 1, 20, 19.06.2017.

Research output: Contribution to journalArticle

Fábos, B, Farkas, K, Tóth, L, Sulák, A, Tripolszki, K, Tihanyi, M, Németh, R, Vas, K, Csoma, Z, Kemény, L, Széll, M & Nagy, N 2017, 'Delineating the genetic heterogeneity of OCA in Hungarian patients', European Journal of Medical Research, vol. 22, no. 1, 20. https://doi.org/10.1186/s40001-017-0262-0
Fábos B, Farkas K, Tóth L, Sulák A, Tripolszki K, Tihanyi M et al. Delineating the genetic heterogeneity of OCA in Hungarian patients. European Journal of Medical Research. 2017 Jun 19;22(1). 20. https://doi.org/10.1186/s40001-017-0262-0
Fábos, Beáta ; Farkas, Katalin ; Tóth, Lola ; Sulák, Adrienn ; Tripolszki, Kornélia ; Tihanyi, Mariann ; Németh, Réka ; Vas, Krisztina ; Csoma, Zsanett ; Kemény, L. ; Széll, M. ; Nagy, N. / Delineating the genetic heterogeneity of OCA in Hungarian patients. In: European Journal of Medical Research. 2017 ; Vol. 22, No. 1.
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AU - Tihanyi, Mariann

AU - Németh, Réka

AU - Vas, Krisztina

AU - Csoma, Zsanett

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AU - Széll, M.

AU - Nagy, N.

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