Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Rita Selvatici, Rachele Rossi, F. Fortunato, Cecilia Trabanelli, Yamina Sifi, Alice Margutti, Marcella Neri, Francesca Gualandi, Lena Szabò, Bálint Fekete, Lyudmilla Angelova, Ivan Litvinenko, Иван Иванов, Yurtsever Vildan, Oana Alexandra Iuhas, Mihaela Adela Vințan, Carmen Burloiu, Butnariu Lăcrămioara, Gabriela Visa, Diana Epure, Rusu Cristina, D. Vasile, Magdalena Sandu, D. Vlodavets, Monica Mager, Theodore Kyriakides, Sanja Delin, Ivan Lehman, Jadranka Sekelj Fureš, Veneta Bojinova, Mariela Militaru, Velina Guergueltcheva, Birutė Burnytė, Maria Judith Molnar, Niculina Butoianu, Selma Dounia Bensemmane, Samira Makri-Mokrane, Ágnes Herczegfalvi, Monica-Cristina Pânzaru, Adela Chiriță-Emandi, Anna Łusakowska, Anna Potulska‐Chromik, Anna Kostera‐Pruszczyk, Andriy Shatillo, Djawed Bouchenak Khelladi, Oussama Dendane, Mingyan Fang, Zhiyuan Lǚ, Alessandra Ferlini
Abstract
OBJECTIVE: mutations, which may impact on DMD genetic diagnosis pipelines, we studied 328 patients with DMD and BMD from non-European countries. METHODS: gene modifiers. RESULTS: deletions and small mutations and its adoption could allow a detection rate close to 90% of all occurring mutations. Gene modifiers haplotypes were identified with some ethnic-specific configurations. CONCLUSIONS: Our data provide unreported mutation landscapes in different countries, suggesting that ethnicity may orient genetic diagnosis flowchart, which can be adjusted depending on the mutation type frequency, with impact in drug eligibility.