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Table 1 Twenty-two subjects with a confirmed clinical/molecular diagnosis of ADNP syndrome

From: Gene domain-specific DNA methylation episignatures highlight distinct molecular entities 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
  1. 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