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Five novel CNGB3 gene mutations in Polish patients with achromatopsia

PURPOSE: To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families. METHODS: In this study, we investigated probands with a clinical diagnosis of ACHM. Ophthalmologic examinations, including visual acuity testing, color vision testing, and full-field...

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Autores principales: Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279706/
https://www.ncbi.nlm.nih.gov/pubmed/25558176
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author Wawrocka, Anna
Kohl, Susanne
Baumann, Britta
Walczak-Sztulpa, Joanna
Wicher, Katarzyna
Skorczyk-Werner, Anna
Krawczynski, Maciej R.
author_facet Wawrocka, Anna
Kohl, Susanne
Baumann, Britta
Walczak-Sztulpa, Joanna
Wicher, Katarzyna
Skorczyk-Werner, Anna
Krawczynski, Maciej R.
author_sort Wawrocka, Anna
collection PubMed
description PURPOSE: To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families. METHODS: In this study, we investigated probands with a clinical diagnosis of ACHM. Ophthalmologic examinations, including visual acuity testing, color vision testing, and full-field electroretinography (ERG), were performed in all patients (with the exception of patient p4, who had no ERG). Direct DNA sequencing encompassing the entire coding region of the CNGB3 gene, eight exons of the GNAT2 gene, and exons 5–7 of the CNGA3 gene was performed. Segregation analysis for the presence and independent inheritance of two mutant alleles was performed in the three families available for study. RESULTS: All patients showed typical achromatopsia signs and symptoms. Sequencing helped detect causative changes in the CNGB3 gene in all probands. Eight different mutations were detected in the CNGB3 gene, including five novel mutations: two splice site mutations (c.1579–1G>A and c.494–2A>T), one nonsense substitution (c.1194T>G), and two frame-shift mutations (c.393_394delGCinsTCCTGGTGA and c.1366delC). We also found three mutations: one splice site (c.1578+1G>A) and two frame-shift deletions that had been previously described (c.819_826del and c.1148delC). All respective parents were shown to be heterozygous carriers for the mutation detected in their children. CONCLUSIONS: The present study reports five novel mutations in the CNGB3 gene, and thus broadens the spectrum of probably pathogenic mutations associated with ACHM. Together with molecular data, we provide a brief clinical description of the affected individuals.
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spelling pubmed-42797062015-01-02 Five novel CNGB3 gene mutations in Polish patients with achromatopsia Wawrocka, Anna Kohl, Susanne Baumann, Britta Walczak-Sztulpa, Joanna Wicher, Katarzyna Skorczyk-Werner, Anna Krawczynski, Maciej R. Mol Vis Research Article PURPOSE: To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families. METHODS: In this study, we investigated probands with a clinical diagnosis of ACHM. Ophthalmologic examinations, including visual acuity testing, color vision testing, and full-field electroretinography (ERG), were performed in all patients (with the exception of patient p4, who had no ERG). Direct DNA sequencing encompassing the entire coding region of the CNGB3 gene, eight exons of the GNAT2 gene, and exons 5–7 of the CNGA3 gene was performed. Segregation analysis for the presence and independent inheritance of two mutant alleles was performed in the three families available for study. RESULTS: All patients showed typical achromatopsia signs and symptoms. Sequencing helped detect causative changes in the CNGB3 gene in all probands. Eight different mutations were detected in the CNGB3 gene, including five novel mutations: two splice site mutations (c.1579–1G>A and c.494–2A>T), one nonsense substitution (c.1194T>G), and two frame-shift mutations (c.393_394delGCinsTCCTGGTGA and c.1366delC). We also found three mutations: one splice site (c.1578+1G>A) and two frame-shift deletions that had been previously described (c.819_826del and c.1148delC). All respective parents were shown to be heterozygous carriers for the mutation detected in their children. CONCLUSIONS: The present study reports five novel mutations in the CNGB3 gene, and thus broadens the spectrum of probably pathogenic mutations associated with ACHM. Together with molecular data, we provide a brief clinical description of the affected individuals. Molecular Vision 2014-12-23 /pmc/articles/PMC4279706/ /pubmed/25558176 Text en Copyright © 2014 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
spellingShingle Research Article
Wawrocka, Anna
Kohl, Susanne
Baumann, Britta
Walczak-Sztulpa, Joanna
Wicher, Katarzyna
Skorczyk-Werner, Anna
Krawczynski, Maciej R.
Five novel CNGB3 gene mutations in Polish patients with achromatopsia
title Five novel CNGB3 gene mutations in Polish patients with achromatopsia
title_full Five novel CNGB3 gene mutations in Polish patients with achromatopsia
title_fullStr Five novel CNGB3 gene mutations in Polish patients with achromatopsia
title_full_unstemmed Five novel CNGB3 gene mutations in Polish patients with achromatopsia
title_short Five novel CNGB3 gene mutations in Polish patients with achromatopsia
title_sort five novel cngb3 gene mutations in polish patients with achromatopsia
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279706/
https://www.ncbi.nlm.nih.gov/pubmed/25558176
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