The dystrophin gene
The dystrophin gene is located on the X chromosome and is the largest gene in the human genome.1 This may make it more susceptible to mutations.2 So far, more than 7,000 individual mutations in the dystrophin gene have been identified.1
Dystrophin gene mutations
Deletion, duplication, point and other small mutations can cause Duchenne muscular dystrophy1,3,4
Why mutation type matters
Knowing the mutation type can be helpful for medical management options, and the possibility of enrolling into clinical trials.4,5
Large mutations can be detected using multiplex ligation-dependent probe amplification (MLPA). Small deletions, such as nonsense mutations, require gene sequencing. 4
Only genetic testing can identify the dystrophin gene mutation type; this is important for genetic counselling, prenatal diagnosis and considering mutation-specific therapies
1. Bladen CL, et al. Hum Mutat. 2015;36:395–402.
2. Esterhuizen AI, et al. S Afr Med J. 2014;104:779–784.
3. Pichavant C, et al. Mol Ther. 2011;19:830–840.
4. Kalman L, et al. J Mol Diagn. 2011;13:167–174.
5. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].