Γ‐sarcoglycan and dystrophin mutation spectrum in an Algerian cohort. Issue 1 (10th February 2017)

• Record Type: Journal Article
• Authors: Dalichaouche, Imene; Sifi, Yamina; Roudaut, Carinne; Sifi, Karima; Hamri, Abdelmadjid; Rouabah, Leila; Abadi, Noureddine; Richard, Isabelle
• Is Part Of: Muscle & nerve. Volume 56:Issue 1(2017)
• Page Start: 129
• Page End: 135
• Publication Date: 2017-02-10
• Subjects: Algeria -- dystrophin -- muscular dystrophy -- mutation -- sarcoglycan; Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.25443
• Languages: English
• ISSNs: 0148-639X

Abstract

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.