Sequencing results for AnWj-negative individuals and family members
| Sample . | Phenotype . | Genetic investigations . | CD44H (exons 1-5, 15-18) NM_00610.4 . | SMYD1 NM_001330364.2 . | MAL NC_0002.12, NM_002371.4 . |
|---|---|---|---|---|---|
| P1 | AnWj-negative (inherited) | WES, Sanger SMYD1 & MAL, breakpoint analysis | No mutations | No mutation | Homozygous MAL 6646 nt deletion encompassing exons 3 and 4; (NC_00002.12, NM_002371.4; 262-423_462+2348del) |
| P2 | AnWj-negative (inherited) | WES, Sanger SMYD1 & MAL | No mutations | Homozygous 959G>A, R320Q (rs114851602; gnomAD v4.0.0 freq 0.0006) | Homozygous MAL 6646 nt deletion as in P1 |
| P2_F1 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 & MAL, breakpoint analysis | No mutations | Homozygous 959G>A, R320Q | Homozygous MAL 6646 nt deletion as in P1 |
| P2_F2 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 | No mutations | Homozygous 959G>A, R320Q | Homozygous MAL 6646 nt deletion as in P1 |
| P2_F3 | AnWj-positive | Targeted NGS, Sanger SMYD1 | No mutations | No mutation | Wild-type MAL, no deletion |
| P2_F4 | AnWj-positive | Targeted NGS, Sanger SMYD1 | No mutations | Heterozygous 959G>A, R320Q | Heterozygous MAL 6646 nt deletion |
| P3 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 & MAL, breakpoint analysis | Homozygous synonymous mutation in exon 3; 255C>T, H85H (rs1071695; gnomAD v4.0.0 freq. 0.16) | No mutation | Homozygous MAL 6646 nt deletion as in P1 |
| P4 | AnWj-negative (inherited) | Sanger SMYD1 & MAL, breakpoint analysis | not tested | No mutation | Homozygous MAL 6646 nt deletion as in P1 |
| P5 | AnWj-negative (suppression) | Targeted NGS, Sanger SMYD1 & MAL | No mutations | No mutation | Wild-type MAL, no deletion |
| P6 | AnWj-negative (suppression) | Targeted NGS, Sanger SMYD1 & MAL | Heterozygous mutation in exon 17 2018G>A; R673Q (rs61752932; gnomAD v4.0.0 freq. 0.003) | No mutation | Wild-type MAL, no deletion |
| P7 | AnWj-negative (suppression) | Sanger SMYD1 & MAL | not tested | No mutation | Wild-type MAL, no deletion |
| P8 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 | No mutations | Homozygous 959G>A, R320Q | Homozygous MAL 6646 nt deletion as in P1 |
| P8_F1 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 | No mutations | Homozygous 959G>A, R320Q | Homozygous MAL 6646 nt deletion as in P1 |
| Sample . | Phenotype . | Genetic investigations . | CD44H (exons 1-5, 15-18) NM_00610.4 . | SMYD1 NM_001330364.2 . | MAL NC_0002.12, NM_002371.4 . |
|---|---|---|---|---|---|
| P1 | AnWj-negative (inherited) | WES, Sanger SMYD1 & MAL, breakpoint analysis | No mutations | No mutation | Homozygous MAL 6646 nt deletion encompassing exons 3 and 4; (NC_00002.12, NM_002371.4; 262-423_462+2348del) |
| P2 | AnWj-negative (inherited) | WES, Sanger SMYD1 & MAL | No mutations | Homozygous 959G>A, R320Q (rs114851602; gnomAD v4.0.0 freq 0.0006) | Homozygous MAL 6646 nt deletion as in P1 |
| P2_F1 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 & MAL, breakpoint analysis | No mutations | Homozygous 959G>A, R320Q | Homozygous MAL 6646 nt deletion as in P1 |
| P2_F2 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 | No mutations | Homozygous 959G>A, R320Q | Homozygous MAL 6646 nt deletion as in P1 |
| P2_F3 | AnWj-positive | Targeted NGS, Sanger SMYD1 | No mutations | No mutation | Wild-type MAL, no deletion |
| P2_F4 | AnWj-positive | Targeted NGS, Sanger SMYD1 | No mutations | Heterozygous 959G>A, R320Q | Heterozygous MAL 6646 nt deletion |
| P3 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 & MAL, breakpoint analysis | Homozygous synonymous mutation in exon 3; 255C>T, H85H (rs1071695; gnomAD v4.0.0 freq. 0.16) | No mutation | Homozygous MAL 6646 nt deletion as in P1 |
| P4 | AnWj-negative (inherited) | Sanger SMYD1 & MAL, breakpoint analysis | not tested | No mutation | Homozygous MAL 6646 nt deletion as in P1 |
| P5 | AnWj-negative (suppression) | Targeted NGS, Sanger SMYD1 & MAL | No mutations | No mutation | Wild-type MAL, no deletion |
| P6 | AnWj-negative (suppression) | Targeted NGS, Sanger SMYD1 & MAL | Heterozygous mutation in exon 17 2018G>A; R673Q (rs61752932; gnomAD v4.0.0 freq. 0.003) | No mutation | Wild-type MAL, no deletion |
| P7 | AnWj-negative (suppression) | Sanger SMYD1 & MAL | not tested | No mutation | Wild-type MAL, no deletion |
| P8 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 | No mutations | Homozygous 959G>A, R320Q | Homozygous MAL 6646 nt deletion as in P1 |
| P8_F1 | AnWj-negative (inherited) | Targeted NGS, Sanger SMYD1 | No mutations | Homozygous 959G>A, R320Q | Homozygous MAL 6646 nt deletion as in P1 |
Freq, frequency; gnomAD, Genome Aggregation Database; NGS, next-generation sequencing; WES, whole-exome sequencing.