Table 1.
Clinical and genetic information of patients with NAA15 variants.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Literature | Total | Percent | |
|---|---|---|---|---|---|---|---|
| Age (months) | 13 | 10 | 17 | 24 | |||
| Nucleotide change * | c.1321G>A | c.1410+5G>C | c.1819C>T | c.1540-1G>T | |||
| Genomic location | Chr4:140280960 | Chr4:140281054 | Chr4:140291430 | Chr4:140282877 | |||
| Amino acid change | p. D441N | − | p. Q607X | − | |||
| Inheritance | de novo | de novo | de novo | maternal | |||
| ACMG classification | LP | LP | P | LP | |||
| Developmental delay (DD) | + | + | + | + | 10/40 | 13/43 | 23.3 |
| Gross motor delay | + | + | + | + | |||
| Fine motor delay | + | − | + | − | |||
| Language delay | + | +/− | + | + | |||
| Personal–social behavior delay | + | + | + | + | |||
| Adaptive behavior delay | + | − | + | + | |||
| Mild/moderate DD | + | + | + | + | 22/42 | 26/46 | 56.5 |
| ADHD or behavioral issues | − | − | + | + | 35/41 | 37/45 | 82.2 |
| Seizures | − | − | + | − | 10/33 | 11/36 | 30.6 |
| Abnormal brain MRI | − | − | − | − | 3/14 | 3/17 | 17.6 |
| Muscle tone issue | − | + | − | − | 9/24 | 10/27 | 37.0 |
* NM_057175.4 (on GRCH37/hg19 assembly). +: positive/present; −: negative/absent; N/A: not available. ADHD: attention deficit hyperactivity disorder; P: pathogenic; LP: likely pathogenic; OFC: occipitofrontal circumference.