Table 1: Primers and PCR conditions used for the detection of MVK mutations.

Exon(s)PrimerSequencePCR conditionsPCR product

1forward
reverse
5′-GAGTGGAAGAGCTGGCATTTGAA-3′ 
5′-GCCTCAGGGTGTCCTTTTACCTTCT-3′
94°C for 2 min, followed by 32 cycles (94°C for 30 s, 56°C for 30 s, 72°C for 30 s) and a final elongation at 72°C for 5 min.
MgCl2: 1.5 mM
381 bp
2forward
reverse
5′-TGGCCTCTGTGCTTATGTTTG-3′ 
5′-AAGCTAATTTTATGAGGTCAGGGTA-3′
94°C for 2 min, followed by 30 cycles (94°C for 30 s, 58°C for 30 s, 72°C for 30 s) and a final elongation at 72°C for 5 min.
MgCl2: 1.5 mM
386 bp
3forward
reverse
5′-AAAGTCCCTCTCACCCACTTGTGTT-3′ 
5′-CCAGCAGCAATGACAGAAACTCTTC-3′
94°C for 2 min, followed by 30 cycles (94°C for 30 s, 55°C for 30 s, 72°C for 45 s) and a final elongation at 72°C for 5 min.
MgCl2: 2.5 mM
271 bp
4forward
reverse
5′-GAATTTGAAGACGCACATTATTACA- 3′ 
5′-GGCCACTATGACACCTCTCAC-3′
94°C for 2 min, followed by 32 cycles (94°C for 30 s, 55°C for 30 s, 72°C for 70 s) and a final elongation at 72°C for 5 min.
MgCl2: 1.5 mM
1010 bp
5 & 6forward
reverse
5′-AGCTGGAGAGGTTCAGAGTGGACTT-3′ 
5′-GGGAGAAGGAGAGAGCAGGTCT-3′
94°C for 2 min, followed by 32 cycles (94°C for 30 s, 58°C for 30 s, 72°C for 70 s) and a final elongation at 72°C for 5 min.
MgCl2: 2.0 mM
1116 bp
7 & 8forward
reverse
5′-TGCCTCCCTTCTTCCTCCGTATC-3′ 
5′-CCTCCCTTGCACTCTCCCAATTACT-3′
94°C for 2 min, followed by 30 cycles (94°C for 30 s, 57°C for 30 s, 72°C for 70 s) and a final elongation at 72°C for 5 min.
MgCl2: 1.5 mM, 10% DMSO
932 bp
9forward
reverse
5′-GTCTCCAGCCAACAACTGTCAGATG-3′ 
5′-TTCCAGGTCTCTTTTTCCTTTCAA-3′
94°C for 2 min, followed by 30 cycles (94°C for 30 s, 57°C for 30 s, 72°C for 30 s) and a final elongation at 72°C for 5 min.
MgCl2: 2.5 mM
352 bp
10forward
reverse
5′-TTGCCTTGAATATGATGAGCTTC-3′ 
5′-GCCAGCACAGAGTCGAACTG-3′
94°C for 2 min, followed by 30 cycles (94°C for 30 s, 57°C for 30 s, 72°C for 30 s) and a final elongation at 72°C for 5 min.
MgCl2: 2.5 mM
306 bp