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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

AIM: To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population. METHODS: arSTGD patients (n = 133) were analysed using ABCR400 microarray and sequencing. Control subjects were a...

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Autores principales: Riveiro-Alvarez, R, Aguirre-Lamban, J, Lopez-Martinez, M Angel, Trujillo-Tiebas, M Jose, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Ramos, C, Ayuso, C
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743849/
https://www.ncbi.nlm.nih.gov/pubmed/18977788
http://dx.doi.org/10.1136/bjo.2008.148155
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author Riveiro-Alvarez, R
Aguirre-Lamban, J
Lopez-Martinez, M Angel
Trujillo-Tiebas, M Jose
Cantalapiedra, D
Vallespin, E
Avila-Fernandez, A
Ramos, C
Ayuso, C
author_facet Riveiro-Alvarez, R
Aguirre-Lamban, J
Lopez-Martinez, M Angel
Trujillo-Tiebas, M Jose
Cantalapiedra, D
Vallespin, E
Avila-Fernandez, A
Ramos, C
Ayuso, C
author_sort Riveiro-Alvarez, R
collection PubMed
description AIM: To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population. METHODS: arSTGD patients (n = 133) were analysed using ABCR400 microarray and sequencing. Control subjects were analysed by two different strategies: 200 individuals were screened for the p.Arg1129Leu mutation by denaturing-HPLC and sequencing; 78 individuals were tested for variants with the microarray and sequencing. RESULTS: For the first strategy in control subjects, the p.Arg1129Leu variant was found in two heterozygous individuals, which would mean a carrier frequency for any variant of ∼6.0% and a calculated arSTGD prevalence of 1:1000. For the second strategy, carrier frequency was 6.4% and therefore an estimated prevalence of the disease of 1:870. CONCLUSION: Calculated prevalence of arSTGD based on the ABCA4 carrier frequency could be considerably higher than previous estimation. This discrepancy between observed (genotypic) and estimated (phenotypic) prevalence could be due to the existence of non-pathological or low penetrance alleles, which may result in late-onset arSTGD or may be implicated in age-related macular degeneration. This situation should be regarded with especial care when genetic counselling is given and further follow-up of these patients should be recommended.
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spelling pubmed-27438492009-09-22 Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease Riveiro-Alvarez, R Aguirre-Lamban, J Lopez-Martinez, M Angel Trujillo-Tiebas, M Jose Cantalapiedra, D Vallespin, E Avila-Fernandez, A Ramos, C Ayuso, C Br J Ophthalmol Original Articles AIM: To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population. METHODS: arSTGD patients (n = 133) were analysed using ABCR400 microarray and sequencing. Control subjects were analysed by two different strategies: 200 individuals were screened for the p.Arg1129Leu mutation by denaturing-HPLC and sequencing; 78 individuals were tested for variants with the microarray and sequencing. RESULTS: For the first strategy in control subjects, the p.Arg1129Leu variant was found in two heterozygous individuals, which would mean a carrier frequency for any variant of ∼6.0% and a calculated arSTGD prevalence of 1:1000. For the second strategy, carrier frequency was 6.4% and therefore an estimated prevalence of the disease of 1:870. CONCLUSION: Calculated prevalence of arSTGD based on the ABCA4 carrier frequency could be considerably higher than previous estimation. This discrepancy between observed (genotypic) and estimated (phenotypic) prevalence could be due to the existence of non-pathological or low penetrance alleles, which may result in late-onset arSTGD or may be implicated in age-related macular degeneration. This situation should be regarded with especial care when genetic counselling is given and further follow-up of these patients should be recommended. BMJ Group 2009-10 2008-10-31 /pmc/articles/PMC2743849/ /pubmed/18977788 http://dx.doi.org/10.1136/bjo.2008.148155 Text en © Riveiro-Alvarez et al 2009 http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Riveiro-Alvarez, R
Aguirre-Lamban, J
Lopez-Martinez, M Angel
Trujillo-Tiebas, M Jose
Cantalapiedra, D
Vallespin, E
Avila-Fernandez, A
Ramos, C
Ayuso, C
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
title Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
title_full Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
title_fullStr Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
title_full_unstemmed Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
title_short Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
title_sort frequency of abca4 mutations in 278 spanish controls: an insight into the prevalence of autosomal recessive stargardt disease
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743849/
https://www.ncbi.nlm.nih.gov/pubmed/18977788
http://dx.doi.org/10.1136/bjo.2008.148155
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