caa a22 4500 445861975 CHVBK 20180317145446.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s00439-010-0913-5 doi (NATIONALLICENCE)springer-10.1007/s00439-010-0913-5 High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients [Elektronische Daten] [Caroline Rooryck, Fanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, Hélène Dollfus, Sabine Defoort-Dhellemme, Bénédicte Duban-Bedu, Thomy de Ravel, Alain Taieb, Didier Lacombe, Benoît Arveiler] Oculocutaneous albinism type 2 (OCA2) represents about 30% of OCA worldwide. Using quantitative multiplex fluorescent PCR and very high-resolution array-CGH focussed on the OCA2 gene and surrounding regions in 15q12, we identified new rearrangements. Deletion 1, encompassing exons 3-20, was present in three patients (including one in the homozygous state), and Deletion 2 (exons 1-20) was found in one patient (heterozygous state). The duplication (exons 3-20) was found in one patient in the homozygous state. Using 14 microsatellite markers we determined haplotypes associated with these rearrangements. Deletion 1 was associated with the same haplotype in three patients who were all of Polish origin, which is strongly in favour of a founder effect. Deletion 2 was associated with a distinct haplotype. The homozygous duplication was inherited from the two unrelated parents of the patients on two different haplotypes. Analysis of the sequences around the breakpoints of these rearrangements showed that all occurred within complex arrays of repetitive sequences. The combined use of very high-resolution array-CGH and of microsatellites (including new intragenic ones described here) constitutes a powerful approach for the precise characterization of OCA2 rearrangements, which have been found in more than 20% of OCA2 patients. Springer-Verlag, 2010 Rooryck Caroline Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076, Bordeaux, France aut Morice-Picard Fanny Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076, Bordeaux, France aut Lasseaux Eulalie Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France aut Cailley Dorothée Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France aut Dollfus Hélène Service de Génétique Médicale CHU de Strasbourg, Strasbourg, France aut Defoort-Dhellemme Sabine Service Exploration Fonctionnelle de la Vision, CHRU de Lille, Lille, France aut Duban-Bedu Bénédicte Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul Lille, Lille, France aut de Ravel Thomy Centrum Menselijke Erfelijkheid, Leuven, Belgium aut Taieb Alain Service de Dermatologie, CHU de Bordeaux, Bordeaux, France aut Lacombe Didier Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076, Bordeaux, France aut Arveiler Benoît Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076, Bordeaux, France aut Human Genetics Springer-Verlag 129/2(2011-02-01), 199-208 0340-6717 129:2<199 2011 129 439 https://doi.org/10.1007/s00439-010-0913-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0913-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rooryck Caroline Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076, Bordeaux, France aut NATIONALLICENCE 700 1- Morice-Picard Fanny Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076, Bordeaux, France aut NATIONALLICENCE 700 1- Lasseaux Eulalie Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France aut NATIONALLICENCE 700 1- Cailley Dorothée Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France aut NATIONALLICENCE 700 1- Dollfus Hélène Service de Génétique Médicale CHU de Strasbourg, Strasbourg, France aut NATIONALLICENCE 700 1- Defoort-Dhellemme Sabine Service Exploration Fonctionnelle de la Vision, CHRU de Lille, Lille, France aut NATIONALLICENCE 700 1- Duban-Bedu Bénédicte Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul Lille, Lille, France aut NATIONALLICENCE 700 1- de Ravel Thomy Centrum Menselijke Erfelijkheid, Leuven, Belgium aut NATIONALLICENCE 700 1- Taieb Alain Service de Dermatologie, CHU de Bordeaux, Bordeaux, France aut NATIONALLICENCE 700 1- Lacombe Didier Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076, Bordeaux, France aut NATIONALLICENCE 700 1- Arveiler Benoît Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076, Bordeaux, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/2(2011-02-01), 199-208 0340-6717 129:2<199 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer