|
Patient ID
|
Deletions/ Duplications
|
No of Exons Deleted/ Duplicated
|
c MLPA probe ratio (Dosage quotient)
|
Clinical relevance
|
|---|
|
1
|
Homozygous deletions
|
2 (Exon 2 and 3)
|
0.0
|
Yes
|
|
2
|
Homozygous deletions
|
2 (Exon 2 and 3)
|
0.0
|
Yes
|
|
3a
|
Heterozygous deletion
|
1 (Exon 1)
|
0.5
|
Yes
|
|
4a
|
Heterozygous deletion
|
1 (Exon 1)
|
0.5
|
Yes
|
|
5b
|
Heterozygous duplication
|
1 (Exon 1)
|
1.3
|
Yes
|
- aCompound heterozygous with p.E462V as a second allele
- bCompound heterozygous with c.1527-2A > T as a second allele
- c>MLPA ratios (dosage quotient) of below 0.7 or above 1.3 are indicative of a deletion (copy number change from two to one) or duplication (copy number change from two to three), respectively. A dosage quotient of 0.0 indicates a homozygous deletion, 0.35 to 0.65 indicates heterozygous deletion, 1.3 to 1.55 indicates heterozygous duplication and 1.7 to 2.2 indicates homozygous duplication
