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γ‐sarcoglycan and dystrophin mutation spectrum in an Algerian cohort
Author(s) -
Dalichaouche Imene,
Sifi Yamina,
Roudaut Carinne,
Sifi Karima,
Hamri Abdelmadjid,
Rouabah Leila,
Abadi Noureddine,
Richard Isabelle
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25443
Subject(s) - mutation , dystrophin , cohort , medicine , genetics , biology , duchenne muscular dystrophy , gene
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.