Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. / Ferré, Marc; Bonneau, Dominique; Milea, Dan; Chevrollier, Arnaud; Verny, Christophe; Dollfus, Hélène; Ayuso, Carmen; Defoort, Sabine; Vignal, Catherine; Zanlonghi, Xavier; Charlin, Jean-Francois; Kaplan, Josseline; Odent, Sylvie; Hamel, Christian P; Procaccio, Vincent; Reynier, Pascal; Amati-Bonneau, Patrizia; Ferré, Marc; Bonneau, Dominique; Milea, Dan; Chevrollier, Arnaud; Verny, Christophe; Dollfus, Hélène; Ayuso, Carmen; Defoort, Sabine; Vignal, Catherine; Zanlonghi, Xavier; Charlin, Jean-Francois; Kaplan, Josseline; Odent, Sylvie; Hamel, Christian P; Procaccio, Vincent; Reynier, Pascal; Amati-Bonneau, Patrizia.

I: Human Mutation, Bind 30, Nr. 7, 01.07.2009, s. E692-705.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Ferré, M, Bonneau, D, Milea, D, Chevrollier, A, Verny, C, Dollfus, H, Ayuso, C, Defoort, S, Vignal, C, Zanlonghi, X, Charlin, J-F, Kaplan, J, Odent, S, Hamel, CP, Procaccio, V, Reynier, P, Amati-Bonneau, P, Ferré, M, Bonneau, D, Milea, D, Chevrollier, A, Verny, C, Dollfus, H, Ayuso, C, Defoort, S, Vignal, C, Zanlonghi, X, Charlin, J-F, Kaplan, J, Odent, S, Hamel, CP, Procaccio, V, Reynier, P & Amati-Bonneau, P 2009, 'Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations', Human Mutation, bind 30, nr. 7, s. E692-705. https://doi.org/10.1002/humu.21025, https://doi.org/10.1002/humu.21025

APA

Ferré, M., Bonneau, D., Milea, D., Chevrollier, A., Verny, C., Dollfus, H., Ayuso, C., Defoort, S., Vignal, C., Zanlonghi, X., Charlin, J-F., Kaplan, J., Odent, S., Hamel, C. P., Procaccio, V., Reynier, P., Amati-Bonneau, P., Ferré, M., Bonneau, D., ... Amati-Bonneau, P. (2009). Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Human Mutation, 30(7), E692-705. https://doi.org/10.1002/humu.21025, https://doi.org/10.1002/humu.21025

Vancouver

Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H o.a. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Human Mutation. 2009 jul. 1;30(7):E692-705. https://doi.org/10.1002/humu.21025, https://doi.org/10.1002/humu.21025

Author

Ferré, Marc ; Bonneau, Dominique ; Milea, Dan ; Chevrollier, Arnaud ; Verny, Christophe ; Dollfus, Hélène ; Ayuso, Carmen ; Defoort, Sabine ; Vignal, Catherine ; Zanlonghi, Xavier ; Charlin, Jean-Francois ; Kaplan, Josseline ; Odent, Sylvie ; Hamel, Christian P ; Procaccio, Vincent ; Reynier, Pascal ; Amati-Bonneau, Patrizia ; Ferré, Marc ; Bonneau, Dominique ; Milea, Dan ; Chevrollier, Arnaud ; Verny, Christophe ; Dollfus, Hélène ; Ayuso, Carmen ; Defoort, Sabine ; Vignal, Catherine ; Zanlonghi, Xavier ; Charlin, Jean-Francois ; Kaplan, Josseline ; Odent, Sylvie ; Hamel, Christian P ; Procaccio, Vincent ; Reynier, Pascal ; Amati-Bonneau, Patrizia. / Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. I: Human Mutation. 2009 ; Bind 30, Nr. 7. s. E692-705.

Bibtex

@article{883e4d8088ca11df928f000ea68e967b,
title = "Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations",
abstract = "We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes currently identified in ADOA. Molecular defects were identified in 440 patients (45% of screened patients). Among these, 295 patients (67%) had an OPA1 mutation, 131 patients (30%) had an mtDNA mutation, and 14 patients (3%), belonging to three unrelated families, had an OPA3 mutation. Interestingly, OPA1 mutations were found in 157 (40%) of the 392 apparently sporadic cases of optic atrophy. The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here. The statistical analysis of this large set of mutations has led us to propose a diagnostic strategy that should help with the molecular work-up of optic neuropathies. Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease.",
author = "Marc Ferr{\'e} and Dominique Bonneau and Dan Milea and Arnaud Chevrollier and Christophe Verny and H{\'e}l{\`e}ne Dollfus and Carmen Ayuso and Sabine Defoort and Catherine Vignal and Xavier Zanlonghi and Jean-Francois Charlin and Josseline Kaplan and Sylvie Odent and Hamel, {Christian P} and Vincent Procaccio and Pascal Reynier and Patrizia Amati-Bonneau and Marc Ferr{\'e} and Dominique Bonneau and Dan Milea and Arnaud Chevrollier and Christophe Verny and H{\'e}l{\`e}ne Dollfus and Carmen Ayuso and Sabine Defoort and Catherine Vignal and Xavier Zanlonghi and Jean-Francois Charlin and Josseline Kaplan and Sylvie Odent and Hamel, {Christian P} and Vincent Procaccio and Pascal Reynier and Patrizia Amati-Bonneau",
note = "Keywords: DNA, Mitochondrial; GTP Phosphohydrolases; Genetic Testing; Humans; Mutation; Optic Atrophies, Hereditary; Optic Atrophy, Autosomal Dominant; Optic Atrophy, Hereditary, Leber; Proteins",
year = "2009",
month = jul,
day = "1",
doi = "10.1002/humu.21025",
language = "English",
volume = "30",
pages = "E692--705",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "JohnWiley & Sons, Inc.",
number = "7",

}

RIS

TY - JOUR

T1 - Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

AU - Ferré, Marc

AU - Bonneau, Dominique

AU - Milea, Dan

AU - Chevrollier, Arnaud

AU - Verny, Christophe

AU - Dollfus, Hélène

AU - Ayuso, Carmen

AU - Defoort, Sabine

AU - Vignal, Catherine

AU - Zanlonghi, Xavier

AU - Charlin, Jean-Francois

AU - Kaplan, Josseline

AU - Odent, Sylvie

AU - Hamel, Christian P

AU - Procaccio, Vincent

AU - Reynier, Pascal

AU - Amati-Bonneau, Patrizia

AU - Ferré, Marc

AU - Bonneau, Dominique

AU - Milea, Dan

AU - Chevrollier, Arnaud

AU - Verny, Christophe

AU - Dollfus, Hélène

AU - Ayuso, Carmen

AU - Defoort, Sabine

AU - Vignal, Catherine

AU - Zanlonghi, Xavier

AU - Charlin, Jean-Francois

AU - Kaplan, Josseline

AU - Odent, Sylvie

AU - Hamel, Christian P

AU - Procaccio, Vincent

AU - Reynier, Pascal

AU - Amati-Bonneau, Patrizia

N1 - Keywords: DNA, Mitochondrial; GTP Phosphohydrolases; Genetic Testing; Humans; Mutation; Optic Atrophies, Hereditary; Optic Atrophy, Autosomal Dominant; Optic Atrophy, Hereditary, Leber; Proteins

PY - 2009/7/1

Y1 - 2009/7/1

N2 - We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes currently identified in ADOA. Molecular defects were identified in 440 patients (45% of screened patients). Among these, 295 patients (67%) had an OPA1 mutation, 131 patients (30%) had an mtDNA mutation, and 14 patients (3%), belonging to three unrelated families, had an OPA3 mutation. Interestingly, OPA1 mutations were found in 157 (40%) of the 392 apparently sporadic cases of optic atrophy. The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here. The statistical analysis of this large set of mutations has led us to propose a diagnostic strategy that should help with the molecular work-up of optic neuropathies. Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease.

AB - We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes currently identified in ADOA. Molecular defects were identified in 440 patients (45% of screened patients). Among these, 295 patients (67%) had an OPA1 mutation, 131 patients (30%) had an mtDNA mutation, and 14 patients (3%), belonging to three unrelated families, had an OPA3 mutation. Interestingly, OPA1 mutations were found in 157 (40%) of the 392 apparently sporadic cases of optic atrophy. The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here. The statistical analysis of this large set of mutations has led us to propose a diagnostic strategy that should help with the molecular work-up of optic neuropathies. Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease.

U2 - 10.1002/humu.21025

DO - 10.1002/humu.21025

M3 - Journal article

C2 - 19319978

VL - 30

SP - E692-705

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 7

ER -

ID: 20648883