1. γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort
- Author
-
Gicquel, Evelyne, Maizonnier, Natacha, Foltz, Steven, Martin, William, Bourg, Nathalie, Svinartchouk, Fedor, Charton, Karine, Beedle, Aaron, Dalichaouche, Imene, Sifi, Yamina, Roudaut, Carinne, Sifi, Karima, Hamri, Abdelmadjid, Rouabah, Leila, Abadi, Noureddine, Richard, Isabelle, Généthon, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), University of Georgia [USA], EpiVax, Inc, Université Paris-Saclay, Laboratoire Analyse, Modélisation et Matériaux pour la Biologie et l'Environnement (LAMBE - UMR 8587), Université d'Évry-Val-d'Essonne (UEVE)-Institut de Chimie du CNRS (INC)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-CY Cergy Paris Université (CY), Department of Molecular Physiology and Biophysics, University of Iowa [Iowa City], Service de Neurologie, Hôpital Benbadis, GENETHON, Genethon, École pratique des hautes études (EPHE)-Université d'Évry-Val-d'Essonne (UEVE)-GENETHON 3-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche et d'applications sur les thérapies géniques (CRATG), Université d'Évry-Val-d'Essonne (UEVE)-GENETHON 3-Centre National de la Recherche Scientifique (CNRS), Laboratoire Analyse et Modélisation pour la Biologie et l'Environnement (LAMBE - UMR 8587), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université de Cergy Pontoise (UCP), Université Paris-Seine-Université Paris-Seine-Université d'Évry-Val-d'Essonne (UEVE)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), École Pratique des Hautes Études (EPHE), and Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon
- Subjects
muscular dystrophy ,Adult ,Male ,MESH: Mutation ,[SDV.BIO]Life Sciences [q-bio]/Biotechnology ,Adolescent ,Muscular Dystrophies ,Statistics, Nonparametric ,Cohort Studies ,Dystrophin ,Young Adult ,MESH: Dystrophin ,MESH: Child ,Sarcoglycans ,sarcoglycan ,Sarcoglycanopathies ,Humans ,Genetic Testing ,MESH: Sarcoglycans ,Child ,MESH: Cohort Studies ,MESH: Adolescent ,Family Health ,MESH: Statistics, Nonparametric ,MESH: Humans ,MESH: Genetic Testing ,MESH: Child, Preschool ,MESH: Adult ,MESH: Sarcoglycanopathies ,[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,MESH: Muscular Dystrophies ,MESH: Male ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,MESH: Young Adult ,Algeria ,Child, Preschool ,Mutation ,MESH: Family Health ,Female ,MESH: Algeria ,MESH: Female - Abstract
We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families who presented with early onset severe muscular dystrophy and a clinical phenotype resembling limb-girdle muscular dystrophy type 2C.To define the genetic basis of the diseases in these families, we undertook a series of analyses of the γ-sarcoglycan (SGCG) and DMD genes.Fifteen families were shown to carry SGCG variants. Only 2 kinds of causative mutations were identified in the population, mostly in the homozygous state: the well-known c.525delT and the previously described c.87dupT. In the DMD gene, 12 distinctive patterns of deletion were identified, mostly affecting the dystrophin central region.Our data suggest that a simple molecular screen consisting of 2 allele-specific polymerase chain reactions (PCRs) and a set of 3 multiplex PCRs can diagnose half of the patients who present with progressive muscular dystrophy in the developing nation of Algeria. Muscle Nerve 56: 129-135, 2017.
- Published
- 2016
- Full Text
- View/download PDF