Table 3.
Dissection of SETD5 and BRPF1 Contributions to Clinical Features of 3p25 Deletion Syndrome
|
Group 1 (BRPF1 Only) |
Group 2 (SETD5 Only) |
Group 3 (Both SETD5 and BRPF1) |
||||
|---|---|---|---|---|---|---|
| Percentage | Number | Percentage | Number | Percentage | Number | |
| ID | 100% | 7/7 | 100% | 14/14 | 100% | 5/5 |
| Mild or moderate ID | 100% | 6/6 | 100% | 6/6 | 40% | 2/5 |
| Severe ID | 0% | 0/6 | 0% | 0/6 | 60% | 3/5a |
| General Characteristics | ||||||
| Uneventful pregnancy (born at term) | 33% | 2/6 | 64% | 9/14 | 40% | 2/5 |
| Low birth parameters | 33% | 2/6 | 8% | 1/13 | 0% | 0/4 |
| Small stature | 43% | 3/7b | 15% | 2/13 | 100% | 4/4a |
| Microcephaly or borderline small head size | 100% | 6/6b,c | 8% | 1/13 | 100% | 4/4 |
| Development | ||||||
| Walking delay | 86% | 6/7 | 83% | 10/12 | 100% | 5/5 |
| Severe walking delay (>3 years) | 0% | 0/7 | 17% | 2/12 | 100% | 5/5a,c |
| Speech delay | 86% | 6/7 | 92% | 12/13 | 100% | 5/5 |
| No speech | 0% | 0/7 | 8% | 1/12 | 100% | 5/5a,c |
| Neurological Features | ||||||
| Seizures | 29% | 2/7 | 21% | 3/14 | 80% | 4/5a |
| Hypotonia | 67% | 4/6 | 67% | 4/6 | 100% | 4/4 |
| Brain anomalies (MRI) | 67% | 2/3 | 0% | 0/4 | 25% | 1/4 |
| Behavioral anomalies | 71% | 5/7 | 77% | 10/13 | 25% | 1/4 |
| Others Features | ||||||
| Strabismus | 80% | 4/5b | 36% | 5/14 | 100% | 4/4 |
| Ptosis and/or blepharophimosis | 100% | 7/7b,c | 7% | 1/14 | 100% | 5/5a |
| Hand anomalies | 71% | 5/7 | 50% | 7/14 | 80% | 4/5 |
| Feet anomalies | 57% | 4/7 | 15% | 2/13 | 40% | 2/5 |
| Congenital heart defect | 0% | 0/7 | 15% | 2/13 | 40% | 2/5 |
Clinical information for individuals with SETD5 point mutations or deletions (group 2) and individuals with large 3p25 deletions encompassing SETD5 and BRPF1 was retrieved from the literature.4, 5, 18, 19 Clinical information for individuals with BRPF1 point mutations or small 3p25 deletions reported in this publication (group 1) was retrieved from physicians attending the families. For the sake of avoiding artifacts, one member per family was considered. A 2 × 2 contingency table was made for analyzing the presence of each clinical sign, and because of the small sample size, a two-tailed Fisher’s exact test was used to calculate the p value to highlight a statistically significant difference between groups.
Clinical feature more prevalent when both genes are deleted (group 3) than when only one gene is deleted (groups 1 and 2) (p value < 0.05).
Clinical feature significantly more associated with BRPF1 disruption, with or without SETD5 (group 1 and 3), than with SETD5 disruption only (group 2) (p value < 0.05).
Significant after Bonferroni correction for multiple testing (p value < 0.0017).