Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

• Published in: Muscle & nerve Vol. 53; no. 1; pp. 44 - 48
• Main Authors: Straathof, Chiara S.M., Van Heusden, Dave, Ippel, Pieternella F., Post, Jan G., Voermans, Nicol C., De Visser, Marianne, Brusse, Esther, Van Den Bergen, Janneke C., Van Der Kooi, Anneke J., Verschuuren, Jan J.G.M., Ginjaar, Hendrika B.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.01.2016; Wiley Subscription Services, Inc
• Subjects: Anoctamins; Becker muscular dystrophy; Chloride Channels - genetics; Deoxyribonucleic acid; diagnosis; DNA; DNA Mutational Analysis; Dystrophin - genetics; dystrophinopathy; Female; Humans; Male; muscle disease; Muscular dystrophy; Muscular Dystrophy, Duchenne - diagnosis; Muscular Dystrophy, Duchenne - genetics; Mutation; Mutation - genetics; Retrospective Studies; Becker muscular dystrophy; diagnosis; dystrophinopathy; muscle disease; DNA
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.24691

ABSTRACT Introduction The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985–1995. Methods: All requests for DNA analysis of the DMD gene in probands with suspected BMD were re‐evaluated. If the phenotype was compatible with BMD, and no deletions or duplications were detected, DNA samples were screened for small mutations. Results: In 79 of 185 referrals, no mutation was found. Analysis could be performed on 31 DNA samples. Seven different mutations, including 3 novel ones, were found. Long‐term clinical follow‐up is described. Conclusions: Refining DNA analysis in previously undiagnosed cases can identify mutations in the DMD gene and provide genetic diagnosis of BMD. A delayed diagnosis can still be valuable for the proband or the relatives of BMD patients. Muscle Nerve 53: 44–48, 2016