Duchenne and Becker muscular dystrophy: contribution of a molecular and immunohistochemical analysis in diagnosis in Morocco.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features. We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD. Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis.
Bellayou
Hanane
H
Genetic and Molecular Pathology Laboratory, Medical School, Hassan II University, 19, rue Tarik-Ibn-Ziad, BP 9154, 10000 Casablanca, Morocco.
Hamzi
Khalil
K
Rafai
Mohamed Abdou
MA
Karkouri
Mehdi
M
Slassi
Ilham
I
Azeddoug
Houssine
H
Nadifi
Sellama
S
D000293:Adolescent; D002648:Child; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D009018:Morocco; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D016133:Polymerase Chain Reaction / Q000379:methods*; D014018:Tissue Distribution
C484258:DMD protein, human; D016189:Dystrophin