TABLE 1.
Summary of clinical features of NAA15-related disorder
| Patient #1 | Patient #2 | |||||
|---|---|---|---|---|---|---|
| NAA15 variant | c.1009_1012delGAAA | c.79A > G | ||||
| Transcript | NM_057175.4 | NM_057175.3 | ||||
| AA change | p.Glu337fs | p.Arg27Gly | ||||
| Inheritance | de novo | de novo | ||||
| Classification | Pathogenic | Likely pathogenic | ||||
| Publication | Not previously published | Not previously published | Cheng et al. 2018 | Cheng et al. 2020 | Total | Percent |
| Brain structure/function | ||||||
| Intellectual disability | Too young | Mild | 23/23 | 4/6 | 28/30 | 93.3 |
| ASD/ADHD/behavior issues |
Too young | + | 30/33 | 4/6 | 35/40 | 87.5 |
| Abnormal brain MRI | Not done | Not done | 2/11 | 1/3 | 3/14 | 21.4 |
| Speech delay | + | + | 32/33 | 3/5 | 37/40 | 92.5 |
| Seizures | − | − | 6/26 | 4/5 | 10/33 | 30.3 |
| Motor impairment | ||||||
| Motor delay | + | + | 31/32 | 3/5 | 36/39 | 92.3 |
| Muscular Hypotonia | + | + | 7/18 | 0/4 | 9/24 | 37.5 |
| Feeding difficulties | + | − | 8/14 | 0/3 | 9/19 | 47.4 |
| Cardiovascular | ||||||
| Congenital cardiac defects | − | − | 4/19 | 1/4 | 5/23 | 21.7 |
| Major vessel anomalies | − | − | 2/19 | Unk | 2/19 | 10.5 |
| Arrhythmias | − | − | 1/19 | Unk | 1/19 | 5.3 |
| Hypertension | − | − | 1/19 | Unk | 1/19 | 5.3 |
| HCM | + | + | 0/19 | 0/6 | 2/27 | 7.4 |
| Other | ||||||
| Mild dysmorphic features | + | + | 18/28 | 4/5 | 24/35 | 68.6 |
| Skeletal or connective tissue defects | + | + | 8/20 | 1/4 | 11/26 | 42.3 |
| Ophthalmologic | +, entropion with corneal irritation; hyperopia | +, amblyopia | 2/28 | 3/6 | 7/36 | 19.4 |
| ENT | Bilateral hearing loss | Mild to moderate conductive hearing loss; chronic OM | 0/32 | 0/6 | 2/40 | 5.0 |
Abbreviations: +, positive/present; −, negative/absent; AA, amino acid; ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; ENT, otolaryngology; HCM, hypertrophic cardiomyopathy; MRI, magnetic resonance imaging; OM, otitis media; unk, unknown.