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Neurology Genetics
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February 2021; 7 (1) ArticleOpen Access

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, View ORCID ProfileYamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini
First published December 24, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000536
Rita Selvatici
From the Medical Genetics Unit (R.S., R.R., F.F., C.T., A.M., M.N., F.G., A.F.), Department of Medical Sciences, University of Ferrara, Italy; Neurologie (Y.S.), CHU de Benbadis, Constantine, Algérie; 2nd Department of Paediatrics Clinic (L.S., A.H.), Semmelweis University; Institute of Genomic Medicine and Rare Disorders (B.F., M.J.M.), Semmelweis University, Budapest, Hungary; Department of Medical Genetics (L.A.), Medical University, Varna, Bulgaria; Department of Pediatrics (I. Litvinenko), Medical University Sofia; Department of Child Neurology (I. Litvinenko), University Pediatric Hospital “Prof. Ivan Mitev”, Sofia; Department Pediatrics (I.I.), St. George University Hospital, Medical University Plovdiv, Bulgaria; Pediatric Neurology Department (Y.V.), Pediatric Neurologist County Clinical Emergency Hospital of Constanta; G. Curteanu Municipal Clinical Hospital Oradea (O.A.I.); Department of Neuroscience (M.V., M. Militaru), Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca; Pediatric Neurology Department (C.B., N.B.), “Alexandru Obregia” Clinical Psychiatry Hospital, Bucharest; “Grigore T Popa” University of Medicine and Pharmacy (B.L., C.R., M.P.); “Sfanta Maria” Children's Hospital (B.L., C.R., M.P.); Pediatric Clinical Hospital Sibiu (G.V.); “Dr. Victor Gomoiu” Children's Hospital (D.E., D. Vasile, M.S.); “Carol Davila” University of Medicine and Pharmacy (M.S., N.B.), Bucharest, Romania; Russian Children Neuromuscular Center (D. Vlodavets), Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia; Department of Neuroscience Neurology and Pediatric Neurology “Iuliu Hatieganu” University of Medicine and Pharmacy (M. Mager), Faculty of Medicine; Pediatric Neurology Department (M. Mager), Emergency Clinical Hospital for Children, Cluj-Napoca, Romania; Department of Basic and Clinical Sciences (T.K.), University of Nicosia, Cyprus; Department of Pediatrics (S.D.), General Hospital Zadar, Zadar, Croatia; Department of Paediatrics (I. Lehman, J.S.F.); University Hospital Centre Zagreb, ; Faculty of Medicine University of Osijek (J.S.F.), Croatia; University Hospital of Neurology and Psychiatry Sveti Naum (V.B.); Clinic of Neurology (V.G.), University Hospital Sofiamed; Sofia University “St. Kliment Ohridski” (V.G.)Bulgaria; Institute of Biomedical Sciences (B.B.), Faculty of Medicine, Vilnius University, Lithuania; Ali Ait Idir Hospital (S.D.B., S.M.-M.), Algiers, Algeria; University of Algiers I. Algeria (S.D.B., S.M.-M.); Center of Genomic Medicine (A.C.E.), University of Medicine and Pharmacy Victor Babes Timisoara; Regional Center of Medical Genetics Timis (A.C.E.), Clinical Emergency Hospital for Children Louis Turcanu Timisoara, Romania; Department of Neurology (A.L., A.P., A.K.-P.), Medical University of Warsaw, Poland; Institute of Neurology (A.S.), Psychiatry and Narkology National Academy of Medical Science of Ukraine; Neurologie (D.B.K., O.D.), CHU Tidjani Damerdji, Tlemcen, Algerie; and BGI-Shenzhen (M.F., Z.L.), Shenzhen, China.
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Rachele Rossi
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Fernanda Fortunato
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Cecilia Trabanelli
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Yamina Sifi
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  • ORCID record for Yamina Sifi
Alice Margutti
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Marcella Neri
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Francesca Gualandi
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Lena Szabò
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Balint Fekete
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Lyudmilla Angelova
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Ivan Litvinenko
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Ivan Ivanov
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Yurtsever Vildan
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Oana Alexandra Iuhas
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Mihaela Vintan
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Carmen Burloiu
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Butnariu Lacramioara
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Gabriela Visa
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Diana Epure
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Cristina Rusu
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Daniela Vasile
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Magdalena Sandu
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Dmitry Vlodavets
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Monica Mager
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Theodore Kyriakides
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Sanja Delin
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Ivan Lehman
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Jadranka Sekelj Fureš
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Veneta Bojinova
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Mariela Militaru
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Velina Guergueltcheva
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Birute Burnyte
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Maria Judith Molnar
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Niculina Butoianu
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Selma Dounia Bensemmane
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Samira Makri-Mokrane
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Agnes Herczegfalvi
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Monica Panzaru
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Adela Chirita Emandi
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Anna Lusakowska
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Anna Potulska-Chromik
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Anna Kostera-Pruszczyk
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Andriy Shatillo
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Djawed Bouchenak Khelladi
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Oussama Dendane
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Mingyan Fang
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Zhiyuan Lu
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Alessandra Ferlini
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Full PDF
Citation
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Rita Selvatici, Rachele Rossi, Fernanda Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Balint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Ivan Ivanov, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Vintan, Carmen Burloiu, Butnariu Lacramioara, Gabriela Visa, Diana Epure, Cristina Rusu, Daniela Vasile, Magdalena Sandu, Dmitry Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birute Burnyte, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Agnes Herczegfalvi, Monica Panzaru, Adela Chirita Emandi, Anna Lusakowska, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lu, Alessandra Ferlini
Neurol Genet Feb 2021, 7 (1) e536; DOI: 10.1212/NXG.0000000000000536

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    Figure 1 Distribution of DMD Mutations in Patients With DMD in Countries

    Overview of mutation distribution in patients with DMD from Eastern Europe (A) and Algeria (B). Nonsense mutations were the most frequently occurring mutations in Eastern European patients, accounting for 31% of mutation types in the patients with DMD, followed by deletions (29%), frameshifting (18%), duplications (11%), and splicing canonical sites (9%); missense and consensus splicing are the least frequent (1% each). Deletions were the most frequent mutations in Algerian patients (77%), whereas nonsense (5%), frameshifting (5%), splicing canonical sites (5%), duplication (5%), and missense (3%) variations were the least frequent. No splicing consensus sequence mutations were identified in patients from Algeria. The reported numbers include known and novel, likely pathogenic, mutations/variations, but not VUS. Among the 28 females tested for carrier detection, we found 11 carriers, all heterozygous for large deletions (6) and small mutations (5). The remaining females were not carriers. The 2 patients from Cyprus were not included in the statistical analysis as 1 patient showed an exon 2 duplication, whereas the other resulted negative. DMD = Duchenne muscular dystrophy; VUS = variant of uncertain/unknown significance.

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    Figure 2 Country Distribution of DMD Mutations in Patients With DMD in Eastern European Countries

    Geographical distribution of DMD mutations in Eastern European countries and relative number of patients (in brackets). The percentages for each type of DMD mutation are shown for each country. In countries with more than 30 patients with DMD carrying a DMD mutation, differences can be noted because Polish and Ukrainian patients have a similar mutation landscape with a very high frequency of small mutations (average of 55%), whereas in Romania, 31% of mutation types are small mutations with deletions, and 69% account for duplications. DMD = Duchenne muscular dystrophy.

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    Figure 3 Integrative Genome Viewer (IGV) Visualization

    (A) IGV visualization of sample 2533/18. Visualization of sample 2533/18 with deletion of exon 51: (a) there is no coverage or readings of exon 51. (b and c) Visualization of coverage and reads of exons 50 and 52, which precede and follow the deletion of exon 51, respectively. (B) IGV visualization of sample 2526/18. Visualization of sample 2526/18 with deletion of exons 18–19. (a) This figure shows that there is no coverage or readings corresponding to exons 18 and 19. (b and c) Visualization of coverage and reads of the flanking exon 17 preceding the deletion and of exon 20 following the deletion.

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