Table 1.
Overview on sample IDs according to type of mutation or chromosomal rearrangement respectively
| Patient ID | Mutation/Karyotype | Status | Reference/Name |
| 02P316 | (R) unknown regulatory mutation | homozygous | znar et al.32 |
| 8387 | (S) IVS12-5-10del | homozygous | Hoffmann et al.9 |
| 8388 | (S) IVS12-5-10del | heterozygous | mother of 8387 |
| 8386 | (S) IVS12-5-10del | heterozygous | father of 8387 |
| 8114 | (S) IVS12-5-10del | heterozygous | Hoffmann et al.9 |
| 6295 | (S) IVS12-5-10del | heterozygous | Hoffmann et al.9 |
| 8198 | (S) IVS12-5-10del | heterozygous | Hoffmann et al.9 |
| 11747 | (N) c.32-35del4; p.V11E fs X14 | heterozygous | this report |
| 11904 | (N) c.265C>T; p.R89X | heterozygous | this report |
| 11300 | (N) c.1129C>T; p.R377X | heterozygous | mutation described in9 |
| 11299 | (N) c.1129C>T; p.R377X | heterozygous | mutation described in9 |
| A | control | wild type | |
| B | control | wild type | |
| C | control | wild type | |
| D | control | wild type | |
| E | control | wild type | |
| F | control | wild type | |
| G | control | wild type | |
| H | control | wild type | |
| I | control | wild type | |
| J | control | wild type | |
| K | control | wild type | |
| L | control | wild type | |
| 03P394 | 46,XY, dup(1)(q32q44) | duplication | Nowaczyk et al.33 |
| 01P233 | 46,XY, der(1)(1qter→1q42.3::1p36.3→1qter) | duplication | this report |
| 01P146 | 46,XY, der(3)(3qter→3p26.1::1q25→1qter) | duplication | this report |
We analyzed data from 26 individuals. Two were homozygous for LBR mutations (one with a splice-site mutation and another one with a putative regulatory mutation, (see materials and methods section), and 9 were heterozygous (5 with splice mutation IVS12-5-10del and 4 with null mutations). We further analyzed 12 controls and three individuals with three copies of the LBR-gene due to a cytogenetic rearrangement with duplication of the LBR-gene region at chromosome 1q42 on one allele. (N, null mutation; S, splice site mutation; R, regulatory mutation).