Table 1.
ASD-related genes and variants identified in the multiplex family.
| Gene | Variant | Inheritance | Frequency | CADD PHRED Score | Gene Function |
|---|---|---|---|---|---|
| RELN | NM_005045.3:c.3457G>A;NP_005036.2:p.Val1153Ile;/NM_005045.3:c.1888A>C;NP_005036.2:p.Ser630Arg | Compound heterozygous (in all 3 boys) | <0.0004/<0.026 | 19/25 | Synaptic function and neuronal migration |
| SHANK | NM_133266.4:c.3550C>T;NP_573573.2:p.Pro1184Ser | Mat (in all 3 boys) | ≤8.236 × 10−6 | 24 | Synapse formation, maturation and structural plasticity |
| KMT2C | NM_170606.2:c.12898T>C;NP_733751.2:p.Ser4300Pro | Pat (in all 3 boys) | <0.0004 | 24 | Leukemogenesis and chromatin organization |
| DLG1 | NM_004087.2:c.884C>T; NP_004078.2:p.Ala295Val | Mat (in all 3 boys) | <0.0016 | 33 | Synapse formation and function |
| SCN10A | NM_006514.3:c.3425G>C;NP_006505.3:p.Arg1142Pro/NM_006514.3:c.3542C>T;NP_006505.3:p.Thr1181Met | Compound heterozygous (in all 3 boys) | NR/<0.0022 | 34/14 | Sodium channel, modulating the activity of CNS neurons |
| ASH1L | NM_018489.2:c.1298A>C;NP_060959.2:p.Gln433Pro | Mat (only in Boy-2) | ≤0.00003 | 20 | Chromatin remodeling and organization |
Note: Mat: maternal. Pat: paternal.