Imene Dalichaouche1, Yamina Sifi2,3, Carinne Roudaut4,5, Karima Sifi3,6, Abdelmadjid Hamri2,3, Leila Rouabah1, Noureddine Abadi3,6, Isabelle Richard4,5. 1. Laboratory of Molecular and Cellular Biology, Faculty of Natural Sciences and Life, University 1 of Constantine, Algeria. 2. Service of Neurology CHU of Constantine, Algeria. 3. Laboratory of Biology and Molecular Genetics CHU and University 3 of Constantine, Algeria. 4. INSERM, U951, INTEGRARE research unit, Evry, F-91002, France. 5. Généthon, R&D Department, Evry, F-91002, France. 6. Laboratory of Biochemistry CHU of Constantine, Algeria.
Abstract
INTRODUCTION: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
INTRODUCTION: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: David Israeli; Jérémie Cosette; Guillaume Corre; Fatima Amor; Jérôme Poupiot; Daniel Stockholm; Marie Montus; Bernard Gjata; Isabelle Richard Journal: Mol Ther Methods Clin Dev Date: 2019-05-10 Impact factor: 6.698