Table 1.
Twenty-two subjects with a confirmed clinical/molecular diagnosis of ADNP syndrome
| ID | Age at blood draw | Sex | ADNP variant | Variant effect | Subtype | Dataset |
|---|---|---|---|---|---|---|
| ADNP_03a | 11 | M | c.103dupA (p.Ile35Asnfs*5) | Frame-shift | ADNP-1 | Training |
| ADNP_17 | 12 | F | c.190dupA (p.Thr64Asnfs*35) | Frame-shift | ADNP-1 | Training |
| ADNP_16 | 4 | M | c.539_542delTTAG (p.Val180Glyfs*17) | Frame-shift | ADNP-1 | Testing |
| ADNP_25 | 5 | M | c.819delC (p.Lys274Asnfs*31) | Frame-shift | ADNP-1 | Training |
| ADNP_29 | 3 | M | c.859_862dup (p.Gly288Aspfs*27) | Frame-shift | ADNP-1 | Training |
| ADNP_23 | 10 | M | c.1046_1047delTG (p.Leu349Argfs*49) | Frame-shift | ADNP-1 | Testing |
| ADNP_08 | 2 | M | c.1102C>T (p.Gln368*) | Nonsense | ADNP-1 | Training |
| ADNP_05a | 2 | M | c.1106_1108delTACinsCTGT (p.Leu369Serfs*30) | Frame-shift | ADNP-1 | Training |
| ADNP_12 | 4 | F | c.1222_1223delAA (p.Lys408Valfs*31) | Frame-shift | ADNP-1 | Training |
| ADNP_20 | 9 | F | c.1287dupT (p.Ala430Cysfs*10) | Frame-shift | ADNP-1 | Training |
| ADNP_15 | 12 | F | c.2156_2157insA (p.Tyr719*) | Nonsense | ADNP-2 | Training |
| ADNP_07 | 5 | F | c.2157C>A (p.Tyr719*) | Nonsense | ADNP-2 | Testing |
| ADNP_10 | 5 | F | c.2157C>A (p.Tyr719*) | Nonsense | ADNP-2 | Training |
| ADNP_14 | 5 | M | c.2157C>A (p.Tyr719*) | Nonsense | ADNP-2 | Training |
| ADNP_04 | 12 | F | c.2157C>G (p.Tyr719*) | Nonsense | ADNP-2 | Training |
| ADNP_11 | 4 | F | c.2157C>G (p.Tyr719*) | Nonsense | ADNP-2 | Testing |
| ADNP_21 | 4 | M | c.2188C>T (p.Arg730*) | Nonsense | ADNP-2 | Testing |
| ADNP_13 | 3 | M | c.2268dup (p.Lys757Glnfs*4) | Frame-shift | ADNP-2 | Training |
| ADNP_24 | 10 | M | c.2287delT (p.Ser763Profs*9) | Frame-shift | ADNP-2 | Training |
| ADNP_22 | 3 | M | c.2287dupT (p.Ser763Phefs*3) | Frame-shift | ADNP-2 | Training |
| ADNP_02a | 8 | M | c.2340T>G (p.Tyr780*) | Nonsense | ADNP-2 | Training |
| ADNP_09 | 12 | M | c.2419_2423delAAAAG (p.Lys807Glufs*6) | Frame-shift | ADNP-1 | Testing |
aThe DNA methylation profiles of these three subjects were examined from blood samples collected years apart to evaluate the changes in the ADNP episignature over time (Additional file 1: Figure S1). Individuals are listed in ascending order according to the cDNA nomenclature. Mean ± standard deviation of all patients’ age 6.8 ± 3.8 (36% females), matched controls 7.9 ± 5.7 (37% females); epi-ADNP-1 subtype 7.2 ± 4.2 (25% females), matched controls 7.3 ± 4.2 (28% females); epi-ADNP-2 subtype age 6.3 ± 3.6 (32% females), matched controls 5.6 ± 3.6 (35% females); ADNP transcript NM_015339.2; Photographs of some of these subjects are provided in Additional file 1: Figure S1