Table. 1 Diagnostic score summary of individuals diagnosed with ASD that have de novo or truncating variants in TAOK2 ▓
Proband | Variant | Type | RefSeq effect | Affected isoforms | Inheritance | Polyphen score | Diagnosis | IQ | Language | Adaptive behavior | Other medical info |
|---|---|---|---|---|---|---|---|---|---|---|---|
1-0337-003 | TAO2 A135P | HET | MISSENSE | Alpha Beta Gamma | De novo | 0.97 | ADI dx: autism ADOS dx: not autism spectrum | Leiter-R: 123 | OWLS: listening comprehension SS = 81, oral expression SS = 77, oral composite SS = 77 | VABS-II: communication SS = 79, daily living SS = 75 ,socialization SS = 72 ,adaptive behavior SS = 74 | |
1-0559-003 | TAO2 P1022* | HET | FRAMESHIFT DELETION | Beta | De novo | N/A | ADI and ADOS dx: autism; SCQ dx: autism | WASI-II: verbal comprehension composite = 55, perceptual reasoning composite = 71 | OWLS: listening comprehension SS = 40, oral expression SS = 37, oral composite SS = 40 | VABS-II: communication SS = 70, daily living SS = 66, socialization SS = 61, adaptive behavior SS = 64; ABAS-II: GAC composite = 40, practical composite = 40, social composite = 54, conceptual composite = 49 | CHD8 mutation (T2050Nfs*17) |
7-0179-003 | TAO2 c.563 + 12_563 + 15 | HET | SPLICE SITE DELETION | Alpha Beta Gamma | De novo | N/A | SCQ dx: autism | ABAS-II: GAC composite = 69, practical composite = 68, social composite = 72, conceptual composite = 84 | ADHD-Inattentive (SWAN) | ||
1-0446-003 | TAO2 L1030Wfs*3 | HET | FRAMESHIFT DELETION | Alpha Beta Gamma | N/A | N/A | ADOS dx: autism | WASI-II: verbal IQ = 117, performance IQ = 84, full scale IQ = 100 | OWLS: listening comprehension SS = 96, oral expression SS = 91, oral composite SS = 92; PPVT-4: SS = 99 | VABS-II: communication SS = 74, daily living SS = 66, socialization SS = 61, adaptive behavior SS = 65 | |
AU4112303 | TAO2 T604Sfs*45 | HET | NONSENSE | Alpha Beta Gamma | N/A | N/A | Clinical dx: autism; ADI dx: autism | PPVT-4: SS = 56 | SRS-2 T-score (latest): social communication = 56, social motivation = 56, social awareness = 50, social cognition = 61, autistic RRb/mannerisms = 58 total score = 57 | ||
AU4261301 | TAO2 Q622* | HET | FRAMESHIFT DELETION | Alpha Gamma | Paternal; Present in unaffected and affected sibling | N/A | N/A | N/A | N/A | N/A |
