Case Report
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review
Table 1
Clinical features of patients grouped by BRPF1 pathogenic variant location.
| | | Group I N (%) | Group II N (%) | Group III N (%) | Our case proband | Our case sibling |
| | Pathogenic variant (inherited/de novo) | Inherited 7 De novo 6 | Inherited 5 De novo 10 | Inherited 1 De novo 7 | De novo | De novo | | Age at diagnosis | 3–61 Y | 1–34 Y | 2–28 Y | 23 Y | 28 Y | | Sex | 7M, 6F | 10M, 8F | 3M, 4F | F | F | | Craniofacial features | | Flat facial profile | 2/8 (25) | 3/9 (33) | 4/7 (57) | − | − | | DSPF | 7/13 (54) | 6/15 (40) | 4/7 (57) | + | − | | Broad nasal root | 3/7 (43) | 7/13 (54) | 5/6 (83) | + | + | | Round face | 4/9 (44) | 8/15 (53) | 3/8 (38) | − | − | | Hypertelorism | 6/10 (60) | 7/13 (54) | 5/7 (71) | − | − | | Head circumference | | Macrocephaly | 1/8 (13) | 0/11 (0) | 3/4 (75) | + | + | | Microcephaly | 2/8 (25) | 2/11 (18) | 0/3 (0) | − | − | | Neurological features | | Delay in walking | 8/10 (80) | 14/16 (88) | 5/8 (63) | − | − | | Speech delay | 7/10 (70) | 14/16 (88) | 8/8 (100) | + | + | | Intellectual disability | 7/13 (54) | 14/16 (88) | 8/8 (100) | Mild | Mild | | Behavioral anomalies | 6/8 (75) | 2/12 (17) | 3/4 (75) | ADHD | ADHD | | Seizures | 2/13 (15) | 5/19 (26) | 2/8 (25) | − | − | | Brain abnormalities | 2/4 (50) | 4/11 (36) | 3/5 (60) | NA | NA | | Eye | | Ptosis | 8/13 (62) | 14/19 (74) | 3/8 (38) | + | − | | Blepharophimosis | 8/12 (67) | 10/18 (56) | 2/8 (25) | − | − | | Musculoskeletal anomalies | | Hand | 3/8 (38) | 6/11 (55) | 2/5 (40) | − | − | | Foot | 1/8 (13) | 3/10 (30) | 0/3 (0) | − | − | | Growth | | Feeding difficulty | 2/8 (25) | 8/12 (67) | 1/4 (25) | − | − | | Short stature | 1/9 (11) | 6/12 (50) | 1/5 (20) | − | − |
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ADHD: attention deficit hyperactivity disorder, DSPF: down-slanted palpebral fissures, M: male, F: female, NA: information not available, Y: years, +: feature present, −: feature absent.
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