Table 1

Summary of results from SS, NGS and FLA in families MH-1 to MH-16

Family
ID
Patient
ID
Result
NGS
Result SS including AT-repeatResult SS excluding
AT-repeat
AT-repeat SSAT-repeat NGSAT-repeat FLA
MH-13c.467del/WT c.467del/c.467del c.467del/WT 8x/8x 8x/13x8x/13x
MH-16c.467del/WT c.467del/c.467del c.467del/WT 8x/8x 8x/13xND
MH-17c.467del/WT c.467del/c.467del c.467del/WT 8x/8x 8x/13x8x/13x
MH-19NDc.467del/WTc.467del/WT8x/8xND8x/8x
MH-18WT/WTWT/WTWT/WT13x/13x13x/13x13x/13x
MH-14WT/WTWT/WTWT/WT13x/13x13x/13x13x/13x
MH-25c.467del/WTc.467del/WTc.467del/WT8x/8x8x/8x8x/8x
MH-26ND c.467del/c.467del c.467del/WT 8x/8x NDND
MH-27WT/WTWT/WTWT/WT8x/8x8x/8x8x/8x
MH-3c.467del/WTc.467del/WTND8x/8xNDND
MH-3NDc.467del/WTND8x/8xNDND
MH-3NDc.467del/WTND8x/8xNDND
MH-4c.467del/WTc.467del/WTc.467del/WT8x/8x8x/8x8x/8x
MH-5c.467del/WTc.467del/WTc.467del/WT8x/8x8x/8x8x/8x
MH-64c.467del/WTc.467del/WTc.467del/WT8x/8x8x/8x8x/8x
MH-62NDc.467del/WTc.467del/WT8x/8xND8x/8x
MH-67NDc.467del/WTc.467del/WT8x/8xND8x/8x
MH-65NDc.467del/WTc.467del/WT8x/8xND8x/8x
MH-69NDc.467del/WTc.467del/WT8x/8xND8x/8x
MH-68c.467del/WT c.467del/c.467del c.467del/WT 8x/8x 8x/13x8x/15x
MH-610c.467del/WT c.467del/c.467del c.467del/WT 8x/8x 8x/13x8x/14x
MH-7c.467del/c.467delc.467del/c.467delc.467del/c.467del8x/8x8x/8x8x/8x
MH-8c.467del/WTc.467del/WTc.467del/WT8x/8x8x/8x8x/8x
MH-9c.467del/WTc.467del/WTc.467del/WT8x/8x8x/8x8x/8x
MH-10c.467del/c.467delc.467del/c.467delc.467del/c.467del8x/8x8x/8x8x/8x
MH-11c.467del/WTc.467del/WTc.467del/WT8x/8x8x/8x8x/8x
MH-12c.440–2A>C/WTc.440–2A>C/WTc.440–2A>C/WT13x/13xND13x/13x
MH-13c.440–2A>C/WTc.440–2A>C/WTc.440–2A>C/WT13x/13x13x/13x13x/13x
MH-143c.440–2A>C/WT WT/WT c.440–2A>C/WT 8x/8x 8x/13x8x/13x
MH-15c.440–2A>C/WTc.440–2A>C/WT13x/13x13x/13x13x/13x
MH-16NDc.440–2A>C/WTND13x/13x*NDND
  • 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.