[gamma]-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort

• Published in: Muscle & nerve Vol. 56; no. 1; p. 129
• Main Authors: Dalichaouche, Imene, Sifi, Yamina, Roudaut, Carinne, Sifi, Karima, Hamri, Abdelmadjid, Rouabah, Leila, Abadi, Noureddine, Richard, Isabelle
• Format: Journal Article
• Language: English
• Published: Rochester Wiley Subscription Services, Inc 01.07.2017
• Subjects: Chains (polymeric); Dystrophin; Dystrophy; Gene deletion; Genetic analysis; Multiplexing; Muscular dystrophy; Mutation; Patients; Polymerase chain reaction
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.25443

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 [gamma]-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.