Table 1.
Phenotype comparison between the non-FLHS SRCAP-related NDD (proximal SRCAP) and distal SRCAP groups with the Floating-Harbor syndrome reported in the literature
|
Features |
Literature |
This study |
||||
|---|---|---|---|---|---|---|
| References | FLHS features reported by Le Goff et al.7(reported/observed) | FLHS features reported by Nikkel et al.8(reported/observed) | FLHS features reported by Seifert et al.6(reported/observed) | Total frequency of FLHS features (reported/observed) | Non-FLHS SRCAP-related NDD (reported/observed) | Distal SRCAP individuals (reported/observed) |
| Individuals included | 6 | 52 | 5 | 63 | 28 | 5 |
| FLHS facial gestalt | 6/6 | 52/52 | 5/5 | 63/63 (100%) | 0/28 (0%) | 1/5 (20%) |
| Delayed bone age | 6/6 | 23/25 | 4/4 | 33/35 (94%) | 0/25 (0%) | 0/5 (0%) |
| Short stature (< − 2SD) | 6/6 | 41/52 | 5/5 | 52/63 (83%) | 0/25 (0%) | 0/5 (0%) |
| OFC < −2SD | 3/6 | 9/43 | 0/5 | 12/54 (22%) | 1/24 (4%) | 0/5 (0%) |
| Macrocephaly | 0/6 | 0/43 | 0/5 | 0/54 (0%) | 2/24 (8%) | 0/5 (0%) |
| Speech delay | 6/6 | 52/52 | 5/5 | 63/63 (100%) | 24/25 (96%) | 4/5 (80%) |
| ID/borderline IQ/special education | 1/6 | 37/41 | 4/5 | 42/52 (81%) | 17/24 (71%) | 5/5 (100%) |
| Schizophrenia/psychoses | NR | NR | NR | not typical | 4/25 (16%) | 0/5 (0%) |
| Behavioral problems | NR | 5/25 (9/32 with ADHD) | 3/5 | 8/30 (27%) | 16/25 (64%) | 2/5 (40%) |
| ASD | NR | NR | NR | not typical | 10/24 (42%) | 2/5 (40%) |
| Seizures | 1/6 | 6/52 | 0/5 | 7/63 (11%) | 3/27 (11%) | 0/5 (0%) |
| Joint hypermobility/musculosceletal problems | NR | NR (4/52 with hip dysplasia) | NR | not typical | 13/27 (48%) | 4/5 (80%) |
| Hypotonia | NR | NR | NR | not typical | 16/25 (64%) | 2/5 (40%) |
| Broad thumbs, broad fingertips, brachydactyly | 5/6 | 10/17 | 5/5 | 20/28 (72%) | 0/28 (0%) | 0/5 (0%) |
| Hearing loss | NR | 9/52 | 2/5 | 9/52 (17%) | 3/26 (12%) | 0/5 (0%) |
| Myopia/hypermetropia | NR | 5/43 | NR | 5/43 (12%) | 11/26 (42%) | 2/5 (40%) |
| Strabismus | NR | 7/43 | NR | 7/43 (16%) | 3/25 (12%) | 0/5 (0%) |
| Cryptorchidism | 0/2 | 5/24 | NR | 5/26 (19%) | 0/13 (0%) | 1/4 (25%) |
| Genitourinary malformations | 1/6 | 7/52 | 0/5 | 8/63 (13%) | 4/28 (14%) | 2/5 (40%) |
| High pitched voice | NR | 8/11 | NR | 8/11 (73%) | 0/26 (0%) | 0/5 (0%) |
NR, not reported; ASD, autism spectrum disorder; ADHD, attention deficit and hyperactivity disorder.