Table 1.
Genes involved in MRKH syndrome, from “GeneCards: the human gene compendium” [52].
| Gene | Chromosome | Cytogenetic band | Beginning | End | Size | Orientation |
|---|---|---|---|---|---|---|
| WT1 | 11 | 11p13 | 32,409,321 bp from pter | 32,457,176 bp from pter | 47,856 bases | Negative filament |
| WNT4 | 1 | 1p36.23–p35.1 | 22,443,798 bp from pter | 22,470,462 bp from pter | 26,665 bases | Negative filament |
| PAX2 | 10 | 10q24 | 102,505,468 bp from pter | 102,589,698 bp from pter | 84,231 bases | Positive filament |
| HOXA7 | 7 | 7p15.2 | 27,193,335 bp from pter | 27,196,296 bp from pter | 2,962 bases | Negative filament |
| HOXA13 | 7 | 7p15.2 | 27,235,022 bp from pter | 27,239,725 bp from pter | 4,704 bases | Negative filament |
| LHX1 | 17 | 17q12 | 35,294,499 bp from pter | 35,301,912 bp from pter | 7,414 bases | Positive filament |
| HNF1B | 17 | 17cen–q21.3 | 36,046,434 bp from pter | 36,105,237 bp from pter | 58,804 bases | Negative filament |
| KLHL4 | X | Xq21.3 | 86,772,715 bp from pter | 86,925,050 bp from pter | 152,336 bases | Positive filament |
| SHOX | X | Xp22.33; Yp11.3 | 585,079 bp from pter | 620,146 bp from pter | 35,068 bases | Positive filament |