Table 2.
Genetic and clinical characteristics of the patients with rare genetic variants (MAF < 0.5%), reference human genome GRCh37.
| Patient | Gene | Type | Chromosome position | Transcript | cDNA | Protein | Inheritance | BMI (Z-score) | Clinical features |
|---|---|---|---|---|---|---|---|---|---|
| 1 | MC4R | Frameshift deletion | 18:58039275 A>- | NM_005912 | 308delT | V103Afs5* | Maternal | 4.3 | Hyperphagia, type 2 diabetes |
| 2 | MC4R | Frameshift deletion | 18:58039275 A>- | NM_005912 | 308delT | V103Afs5* | De novo | 3.0 | Hyperphagia |
| 3 | MC4R | Missense variant | 18:58039248 G>A | NM_005912 | 335C>T | T112M | NA | 4.1 | |
| 4 | ADCY3 | Missense variant | 2:25042908 C>G | NM_004036 | 3328G>C | G1110R | Maternal | 4.8 | Insulin resistance, asthma, depression |
| 5 | MYT1L | Missense variant | 2:1893113 C>T | NM_001303052 | 2420G>A | R807Q | NA | 3.8 | Behavioral problems |
| 6 | ISL1 | Missense variant | 5:50689433 A>T | NM_002202 | 1039A>T | I347F | NA | 2.8 | |
| 7 | LRP2 | Missense variant | 2:170062653 C>A | NM_004525 | 7436G>T | R2479I | Maternal | 2.8 | |
| 8 | LRP2 | Missense variant | 2:170038731 T>C | NM_004525 | 9944A>G | N3315S | NA | 4.3 | Insulin resistance, hypothyroidism, depression |
| 8 | GRPR | Missense variant | X:16142335C>A | NM_005314 | 259C>A | L87M | NA | 4.3 | Insulin resistance, hypothyroidism, depression |
NA, data not available.