Table 1.
Clinical features of patients with variants in TAF4 in comparison with phenotypes associated with other TFIID NDDs
| Features (HPO code) | TAF1 | TAF2 | TAF6 | TAF13 | TAF4 |
|---|---|---|---|---|---|
| Development | |||||
| Postnatal growth retardation (HP:0008897) | + (11/15) | + (1/5) | + (2/4) | ||
| Delayed gross motor development (HP:0002194) | + (15/15) | + (1/5) | + (4/4) | ||
| Delayed speech and language development (HP:0000750) | + (14/15) | + (1/5) | + (4/4) | + (7/8) | |
| Delayed puberty (HP:0000823) | + (3/4) | ||||
| Delayed bone age (HP:0002750) | + (3/4) | + (1/8) | |||
| Intellectual disability (HP:0001249) | + (14/15) | + (6/6) | + (5/5) | + (4/4) | + (7/8) |
| None of the above | 0/15 | 0/6 | 0/5 | 0/4 | 0/8 |
| Craniofacial | |||||
| Long face (HP:0000276) | + (10/15) | ||||
| Prominent forehead (HP:0011220) | + (9/15) | ||||
| Low frontal hairline (HP:0000294) | + (4/5) | ||||
| Arched eyebrows (HP:0002553) | + (5/5) | + (5/8) | |||
| Prominent supraorbital ridges (HP:0000336) | + (11/15) | ||||
| Downslanted palpebral fissures (HP:0000494) | + (10/15) | + (1/8) | |||
| Deeply set eyes (HP:0000490) | + (8/15) | + (1/8) | |||
| Long (curly) eyelashes (HP:0000527) | + (1/5) | ||||
| Sunken cheeks (HP:0009938) | + (9/15) | ||||
| Prominent nose/nasal bridge (HP:0000448 & HP:0000426) | + (5/5) | + (6/8) | |||
| Bulbous nasal tip (HP:0000414) | + (7/15) | ||||
| Anteverted nares (HP:0000463) | + (11/15) | + (2/8) | |||
| Long philtrum (HP:0000343) | + (12/15) | + (1/5) | + (1/8) | ||
| Prominent philtrum (HP:0002002) | + (2/8) | ||||
| Thin upper lip (HP:0000219) | + (12/15) | + (1/5) | + (1/8) | ||
| Microstomia (HP:0000160) | + (1/5) | ||||
| High palate (HP:0000218) | + (10/15) | + (1/5) | + (1/8) | ||
| Pointed chin (HP:0000307) | + (10/15) | ||||
| Low‐set ears (HP:0000369) | + (12/15) | + (1/8) | |||
| Thickened/Overfolded Helices (HP:0000391 & HP:0000396) | + (9/15) | + (1/8) | |||
| Protruding ears (HP:0000411) | + (11/15) | ||||
| None of the above | 0/15 | 6/6 | 0/5 | 4/4 | 0/8 |
| Eyes | |||||
| Myopia (HP:0000545) | + (5/15) | ||||
| Hypermetropia (HP:0000540) | + (2/8) | ||||
| Strabismus (HP:0000486) | + (9/15) | + (1/5) | |||
| Nystagmus (HP:0000639) | + (2/15) | + (1/6) | |||
| None of the above | 5/15 | 5/6 | 4/5 | 4/4 | 7/8 |
| Ears | |||||
| Hearing impairment (HP:0000365) | + (8/15) | + (1/8) | |||
| Chronic otitis media (HP:0000389) | + (9/15) | ||||
| None of the above | (5/15) | 6/6 | 5/5 | 4/4 | 7/8 |
| Skin | |||||
| Hirsutism (HP:0001007) | + (5/15) | + (4/5) | |||
| None of the above | 10/15 | 6/6 | 1/5 | 4/4 | 8/8 |
| Neurological | |||||
| Microcephaly (HP:0000252) | + (10/15) | + (6/6) | + (1/5) | + (4/4) | + (1/8) |
| Hypoplasia of the corpus callosum (HP:0002079) | + (11/15) | + (4/6) | |||
| Hypoplasia of the cerebellar vermis (HP:0001320) | + (5/15) | + (1/8) | |||
| Gait imbalance (HP:0002141) | + (6/15) | + (1/8) | |||
| Gait disturbance (HP:0001288) | + (6/15) | ||||
| Generalized hypotonia (HP:0001290) | + (13/15) | + (1/5) | |||
| Pyramidal signs (HP:0007256) | + (4/6) | ||||
| Seizures (HP:0001250) | + single seizure (2/4) | + (1/8) | |||
| None of the above | 0/15 | 0/6 | 3/5 | 0/4 | 4/8 |
| Musculoskeletal | |||||
| Unusual gluteal crease (No HP code available) | + (12/15) | ||||
| Narrow shoulders (HP:0000774) | + (1/5) | ||||
| Joint hypermobility (HP:0001382) | + (8/15) | + (4/8) | |||
| Digital anomalies (HP:0011297) | + (4/15) | + (4/8) | |||
| Single transverse palmar crease (HP:0000954) | + (1/5) | + (1/8) | |||
| Foot deformity (HP:0001760) | + (2/6) | + (3/5) | |||
| None of the above | 2/15 | 4/6 | 1/5 | 4/4 | 3/8 |
| Other | |||||
| Cardiac abnormalities (HP:0001627) | + (5/15) | + (1/6) | + (1/8) | ||
| Cryptorchidism (HP:0000028) | + (3/15) | + (2/4) | + (1/8) | ||
| Wide intermamillary distance (HP:0006610) | + (1/5) | + (1/8) | |||
| Autistic behaviors (HP:0000729) | + (9/15) | + (2/8) |
Note: Phenotypic comparison of known TAF‐opthies. The table summarizes the published characteristics of patients with known TAF‐opathies (Alazami et al., 2015; Halevy et al., 2012; Hurst et al., 2018; Najmabadi et al., 2011; O'Rawe et al., 2015; Tawamie et al., 2017). The characteristics identified in the current cohort are presented for reference and contain the same data as presented throughout this report.
Abbreviations: + = present; HPO, Human Phenotype Ontology; TAF4, TATA‐binding protein‐associated factor 4; TFIID, transcription Factor IID.