Table 2.
Phenotypes of ASD carriers with rare variants in ABCA13.
| Sample ID/Sex/Age | Position | Base change | Protein variant and variant effect | Inheritance | Congenital abnormality | ID (IQ < 70) | ADHD | Tic disorders | Motor delay | Epileptic seizure | Sensory hypersensitivity | Mood disorders | OCD | Psychotic symptons | Detailed phenotype |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M > m | |||||||||||||||
| 228/M/9 | 7:48259087 | C > T | p.Arg142*: stop_gained | inherited (maternal) | − | − | − | − | − | − | + | − | − | − | Language delay, poor emotional control |
| 623/F/25 | 7:48280581 | G > T | p.E394*: stop_gained | unknown | − | + | − | − | − | − | − | − | − | + | Mild ID |
| 209/F/6 | 7:48318518 | TA > T | p.I2579*: frameshift_variant | inherited (paternal) | − | − | + | − | − | − | + | − | − | − | Motor coordination deficits |
| 239/M/9 | 7:48319055 | G > A | p.W2765*: stop_gained | inherited (paternal) | − | − | + | − | − | − | + | − | − | − | Night terrors, bedwetting |
| 455M/41 | 7:48392085 | G > C | splice_donor_variant | unknown | − | − | + | − | − | − | − | + | − | − | Attempted suicide and depressive episodes |
Note: The variants in this table were validated by Sanger sequencing. Positions of allele/amino acid changes in ABCA13 were determined with reference to the following ensemble transcription ID based on NCBI Build GRCh37/hg19: ENST00000435803. M major allele, m minor allele, MAC minor allele count, MAF minor allele frequency, ID intellectual disorder, ADHD attention deficit hyperactivity disorder, OCD obsessive compulsive disorder.