Non-synonymous variants identified in HH-related genes in the primary iron overload cases†
| Number | Case number | Known HH-related genes | Novel HH-related genes | |||||||
| HFE | HJV | HAMP | TFR2 | SLC40A1 | TMPRSS6 | BMP4 | SUGP2 | DENND3 | ||
| 1 | H1* | p.H63D | p.E3D | – | p.I238M | – | – | – | p.R639Q |
p.L708V (homozygous) |
| 2 | H1-2 | p.H63D | p.E3D | – | p.I238M | – | – | – | p.R639Q | – |
| 3 | H13* | – | p.Q6H/C321X/I281T | – | – | – | – | – | – | – |
| 4 | H13-1 | p.H63D | p.Q6H/C321X/I281T | – | – | – | – | – | – | – |
| 5 | H22* | – | p.Q6H/C321X/H104R | – | p.A75V | – | – | – | – | – |
| 6 | H22-1 | – | p.H104R | – | p.A75V | – | – | – | – | – |
| 7 | H25* | p.H63D | p.E3D | – | – | – | p.T331M | – | p.R639Q | – |
| 8 | H35* | – | p.E3D | – | – | – | p.R269Q | p.R639Q | – | |
| 9 | H35-1 | – | p.E3D | – | – | – | – | p.R269Q | – | – |
| 10 | H40* | – | p.Q6H/C321X/V274M | – | – | – | – | – | – | – |
| 11 | H2 | – | – | – | – | – | – | – | – | p.L708V |
| 12 | H5 | – | p.Q312X (homozygous) | – | p.I238M (homozygous) | – | – | – | – | – |
| 13 | H9 | – | – | – | – | p.V162del | – | – | – | – |
| 14 | H10 | – | – | – | p.I238M | – | – | – | – | – |
| 15 | H11 | – | – | – | – | IVS3+10delGTT | – | – | – | – |
| 16 | H19 | – | – | – | – | – | – | – | – | – |
| 17 | H31 | – | – | – | p.A302E/I238M | – | – | – | – | p.L708V |
| 18 | H34 | – | – | – | – | IVS1-8C/G | – | – | – | p.L708V |
| 19 | H41 | p.H63D | – | – | p.I238M | – | – | – | – | – |
| 20 | H45 | – | – | – | p.I238M | – | – | – | – | – |
| 21 | H46 | – |
p.F103L (homozygous) | – | – | – | – | – | – | – |
| 22 | H49 | – | – | – | – | p.Y333H | – | – | – | – |
*Cases with family genetic analysis.
†DEEND3 p.L708V, TMPRSS6 p.T331M, BMP4 p.R269Q and SUGP2 p.R639Q were identified by whole exome sequencing and confirmed by Sanger sequencing.
Bold black letters indicated the non-synonymous variants in the iron metabolism-related genes identified for the first time in HH.
HH,hereditary haemochromatosis.