A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis
Table 2
Mutations within the DMD gene—all patient samples.
Patient
Referral reason/phenotype
Genotype
Previous testing method
1
Duchenne muscular dystrophy
c.1594C>T (p.Gln532X)
Sanger sequencing
2
Duchenne muscular dystrophy
c.6439G>T (p.Glu2147X)
Sanger sequencing
3
Duchenne muscular dystrophy
Deletion exons 3–7
MLPA
4
Duchenne muscular dystrophy
Deletion exons 3–44
MLPA
5
Carrier of Becker muscular dystrophy
Deletion exons 45–47
MLPA
6
Duchenne muscular dystrophy
Duplication exons 10, 11
Southern blot
7
Prenatal test for Becker muscular dystrophy (foetus of patient 5)
Deletion exons 45–47
8
Becker muscular dystrophy
Duplication exon 12
9
Duchenne muscular dystrophy
Deletion exons 45–48
10
Duchenne muscular dystrophy
c.5199_5209del (p.Thr1734SerfsX10)
No previous testing performed
11
Becker muscular dystrophy
No mutation detected
12
Carrier of Duchenne muscular dystrophy (mother of patient 3)
Heterozygous deletion exons 3–7
13
Carrier of Duchenne muscular dystrophy (mother patient 4)
Heterozygous deletion exons 45–47
14
Carrier of Becker muscular dystrophy (mother of patient 8)