Table 2.
Monogenic variants identified in leptin gene.
| Type/pathogenic mutations | Exon | N | Origin | Consanguinity | Gender | References |
|---|---|---|---|---|---|---|
| Frameshift | ||||||
| ΔG133 (p.g133_VfsX14) | 3 | 2 | Pakistani | Yes | Female | (1) |
| 1 | Pakistani | Yes | Male | (2) | ||
| 1 | Pakistani | Yes | Female | (3) | ||
| 7 | Pakistani | Yes | Male | (4) | ||
| No | Male | |||||
| Yes | Female | |||||
| Yes | Female | |||||
| Yes | Female | |||||
| Yes | Male | |||||
| Yes | Male | |||||
| 9 | Pakistani | Yes | M: 5; F: 4 | (5) | ||
| 5 | Pakistani | Yes | M:1; F: 4 | (6) | ||
| 12 | Pakistani | Yes | M: 4; F: 8 | (7) | ||
| p.Leu161fsX170 | 3 | 1 | Pakistani | Yes | Male | (4) |
| p.Leu12 fs | 2 | 1 | Egyptian | N.A. | Female | (8) |
| Deletion | ||||||
| p.35delIle | 2 | 1 | Pakistani | Yes | Female | (4, 5) |
| 1 | Pakistani | Yes | Female | |||
| c.1-44del42 | Intron 1 | 1 | Pakistani | Yes | Male | (7) |
| Gross deletion | 1 | N.A. | Yes | Male | (9) | |
| Missense | ||||||
| p.Arg105Trp | 3 | 3 | Turkish | Yes | M: 1; F: 2 | (10) |
| 1 | Turkish | Yes | Female | (11) | ||
| 1 | Turkish | Yes | Male | (12) | ||
| 2 | Pakistani | Yes | Male | (7) | ||
| 1 | Egyptian | N.A. | Female | (8) | ||
| P.Ile35Ser | 2 | 1 | Egyptian | N.A. | Male | (8) |
| p.Asn103Lys | 3 | 2 | Egyptian | Yes | M:1; F: 1 | (13) |
| 2 | German | No | M:1; F: 1 | (14) | ||
| 1 | Pakistani | Yes | Male | (15) | ||
| p.Leu72Ser | 3 | 1 | Austrian | No | Female | (16) |
| p.His118Leu | 3 | 1 | Chinese | N.A. | Male | (17) |
| p.Asp100Tyr | 3 | 1 | Turkish | Yes | Male | (18) |
| p.Cys117Tyr | 3 | 1 | Pakistani | Yes | Male | (7) |
| p.Asp100Asn | 3 | 1 | Indian | Yes | Female | (19) |
| p.Cys117Phe | 3 | 2 | Colombian | Yes | Female | (20) |
| Nonsense | ||||||
| p.Q55X | 3 | 1 | Indian | Yes | Female | (21) |
| p.Trp121X | 3 | 2 | Egyptian | Yes | M: 1; F:1 | (22) |
N.A., not available; M, male; F, female.