Chiara S M Straathof1, Dave Van Heusden2, Pieternella F Ippel3, Jan G Post3, Nicol C Voermans4, Marianne De Visser5, Esther Brusse6, Janneke C Van Den Bergen1, Anneke J Van Der Kooi5, Jan J G M Verschuuren1, Hendrika B Ginjaar2. 1. Department of Neurology, Leiden University Medical Center, P.O. Box 9600, 2300RC, Leiden, The Netherlands. 2. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. 3. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. 4. Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. 5. Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 6. Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
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.
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 BMDpatients.
Authors: Eugenio Mercuri; Francesco Muntoni; Andrés Nascimento Osorio; Már Tulinius; Filippo Buccella; Lauren P Morgenroth; Heather Gordish-Dressman; Joel Jiang; Panayiota Trifillis; Jin Zhu; Allan Kristensen; Claudio L Santos; Erik K Henricson; Craig M McDonald; Isabelle Desguerre Journal: J Comp Eff Res Date: 2020-01-30 Impact factor: 1.744