Table 2.
Mutations and Deletions Identified in TXNL4A
| Pedigree and Individual | 1stMutation | Origin | 2ndmutation | Origin |
|---|---|---|---|---|
| BMKS001, III/1 & III/2 | chr18: g.77,733,765C>A, c.349G>T (p.Glu117∗), exon 3 | pat (pat GM) | promoter Δ 1 | mat (mat GF) |
| BMKS002 | chr18: g.77,748,356G>A, c.37C>T (p.Gln13∗), exon 1 | pat | promoter Δ 1 | mat |
| BMKS003 | Ø | Ø | ||
| BMKS004 | WGS[hg19] 18q23(76,854,774–78,077,248)x1 = > Δ 1.222 Mb, del(18)(q23→qter) | ? (not mat) | promoter Δ 1 | ? (not mat) |
| BMKS005 | chr18: g.77,748,262delA, c.131delT (p.Val44Alafs∗48), exon 1 | mat | promoter Δ 1 | pat |
| BMKS006 | arr[hg19] 18q23(77,421,290–77,904,990)x1, Δ 0.484 Mb | mat | promoter Δ 1 | pat |
| BMKS007, II/1 & II/2 | WGS[hg19] 18q23(76,841,645–78,077,248)x1 = > Δ 1.235 Mb, del(18)(q23→qter) | pat | promoter Δ 1 | mat |
| BMKS008 | promoter Δ 2 | mat, pat | promoter Δ 2 | pat, mat |
| BMKS009 | 46,XX,r(18)(p14q23) arr[hg19] 18q23(73,376,178–78,077,248)x1 = > Δ 4.701 Mb, del(18)(q23→qter) | de novo | promoter Δ 1 | mat |
| BMKS010 | Δ of exon 3 of TXNL4A (MLPA) | ? (par. n. avail.) | promoter Δ 1 | ? (par. n. avail.) |
| BMKS011 | Ø | Ø |
The WGS sequences extend up to 78,017,154 where the terminal repeat region starts. The position of the endpoints for the terminal deletions are set to 78,077,248 according to the length of chromosome 18 (CRCh37/hg19). TXNL4A reference sequence is RefSeq NM_006701.2.
promoter Δ 1: WGS[hg19] chr18: g.77,748,581_77,748,614delCGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAG
promoter Δ 2: WGS[hg19] chr18: g.77,748,604_77,748,637delGCGCGCGCTAGCGCCGTGCGTGCTGACGGCATGT
The overlap of the promoter Δ 1 and promoter Δ 2 deletions is underlined.
Abbreviations are as follows: pat, paternal; mat, maternal; GF, grandfather; GM, grandmother: Ø, no mutation found; WGS, whole-genome sequencing.