Family ID | Patient ID | Result NGS | Result SS including AT-repeat | Result SS excluding AT-repeat | AT-repeat SS | AT-repeat NGS | AT-repeat FLA |
MH-1 | 3 | c.467del/WT | c.467del/c.467del | c.467del/WT | 8x/8x | 8x/13x | 8x/13x |
MH-1 | 6 | c.467del/WT | c.467del/c.467del | c.467del/WT | 8x/8x | 8x/13x | ND |
MH-1 | 7 | c.467del/WT | c.467del/c.467del | c.467del/WT | 8x/8x | 8x/13x | 8x/13x |
MH-1 | 9 | ND | c.467del/WT | c.467del/WT | 8x/8x | ND | 8x/8x |
MH-1 | 8 | WT/WT | WT/WT | WT/WT | 13x/13x | 13x/13x | 13x/13x |
MH-1 | 4 | WT/WT | WT/WT | WT/WT | 13x/13x | 13x/13x | 13x/13x |
MH-2 | 5 | c.467del/WT | c.467del/WT | c.467del/WT | 8x/8x | 8x/8x | 8x/8x |
MH-2 | 6 | ND | c.467del/c.467del | c.467del/WT | 8x/8x | ND | ND |
MH-2 | 7 | WT/WT | WT/WT | WT/WT | 8x/8x | 8x/8x | 8x/8x |
MH-3 | – | c.467del/WT | c.467del/WT | ND | 8x/8x | ND | ND |
MH-3 | – | ND | c.467del/WT | ND | 8x/8x | ND | ND |
MH-3 | – | ND | c.467del/WT | ND | 8x/8x | ND | ND |
MH-4 | – | c.467del/WT | c.467del/WT | c.467del/WT | 8x/8x | 8x/8x | 8x/8x |
MH-5 | – | c.467del/WT | c.467del/WT | c.467del/WT | 8x/8x | 8x/8x | 8x/8x |
MH-6 | 4 | c.467del/WT | c.467del/WT | c.467del/WT | 8x/8x | 8x/8x | 8x/8x |
MH-6 | 2 | ND | c.467del/WT | c.467del/WT | 8x/8x | ND | 8x/8x |
MH-6 | 7 | ND | c.467del/WT | c.467del/WT | 8x/8x | ND | 8x/8x |
MH-6 | 5 | ND | c.467del/WT | c.467del/WT | 8x/8x | ND | 8x/8x |
MH-6 | 9 | ND | c.467del/WT | c.467del/WT | 8x/8x | ND | 8x/8x |
MH-6 | 8 | c.467del/WT | c.467del/c.467del | c.467del/WT | 8x/8x | 8x/13x | 8x/15x |
MH-6 | 10 | c.467del/WT | c.467del/c.467del | c.467del/WT | 8x/8x | 8x/13x | 8x/14x |
MH-7 | – | c.467del/c.467del | c.467del/c.467del | c.467del/c.467del | 8x/8x | 8x/8x | 8x/8x |
MH-8 | – | c.467del/WT | c.467del/WT | c.467del/WT | 8x/8x | 8x/8x | 8x/8x |
MH-9 | – | c.467del/WT | c.467del/WT | c.467del/WT | 8x/8x | 8x/8x | 8x/8x |
MH-10 | – | c.467del/c.467del | c.467del/c.467del | c.467del/c.467del | 8x/8x | 8x/8x | 8x/8x |
MH-11 | – | c.467del/WT | c.467del/WT | c.467del/WT | 8x/8x | 8x/8x | 8x/8x |
MH-12 | – | c.440–2A>C/WT | c.440–2A>C/WT | c.440–2A>C/WT | 13x/13x | ND | 13x/13x |
MH-13 | – | c.440–2A>C/WT | c.440–2A>C/WT | c.440–2A>C/WT | 13x/13x | 13x/13x | 13x/13x |
MH-14 | 3 | c.440–2A>C/WT | WT/WT | c.440–2A>C/WT | 8x/8x | 8x/13x | 8x/13x |
MH-15 | – | c.440–2A>C/WT | c.440–2A>C/WT | – | 13x/13x | 13x/13x | 13x/13x |
MH-16 | – | ND | c.440–2A>C/WT | ND | 13x/13x* | ND | ND |
Results of NGS, FLA and SS using different primers with and without the AT-repeat. Contradicting results are highlighted in bold.
Patient ID are listed according to the numbers on the pedigrees (figure 1A).
*Due to lack of DNA, complete testing was not possible, but a homozygous long allele can be concluded from results obtained in the control group (data not shown). Reference sequence according to NM_007289.3.
FLA, fragment length analysis; ND, no data/no DNA; NGS, next-generation sequencing; SS, Sanger sequencing; WT, wildtype.