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γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort
Imene Dalichaouche1, Yamina Sifi2,3, Carinne Roudaut4,5
1Laboratory of Molecular and Cellular Biology, Faculty of Natural Sciences and Life, University 1 of Constantine, Algeria.
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.
