Table 1.
Clinical Features of Individuals Carrying BRPF1 Mutations in Families A and B
|
Family A |
Family B |
|||||
|---|---|---|---|---|---|---|
| Individual 1 (III.2) | Individual 2 (II.2) | Individual 3 (II.3) | Individual 4 (III.4) | Individual 5 (II.5) | Individual 6 | |
| Mutation (GenBank: NM_001003694.1)a | c.1052_1053del (p.Val351Glyfs∗8) | c.1052_1053del (p.Val351Glyfs∗8) | c.1052_1053del (p.Val351Glyfs∗8) | c.1052_1053del (p.Val351Glyfs∗8) | c.1052_1053del (p.Val351Glyfs∗8) | deletion of chr3: 9,724,693–9,896,683 |
| Mutation type | intragenic | intragenic | intragenic | intragenic | intragenic | NA, de novo |
| Sex | male | female | female | female | female | male |
| Age of examination | 5 years, 9 months | 32 years | 34 years | 6 years, 10 months | 30 years | 6 years, 6 months |
| Uneventful pregnancy | diagnosis of club feet | NA | NA | yes | NA | no (36.5 WoG) |
| Birth weight | <5th % | NA | NA | normal | NA | 3rd % |
| Birth length | <3rd % | NA | NA | <5th % | NA | NA |
| Birth OFC | <3rd % | NA | NA | <5th % | NA | NA |
| Neonatal hypotonia | yes | NA | NA | no | NA | no |
| Hypotonia | yes | NA | NA | yes | NA | no |
| Small stature | yes (104.5 cm; <3rd %) | yes (150 cm; <3rd %) | yes (153 cm; <3rd %) | no (122 cm) | yes (152 cm; <3rd %) | no (113 cm) |
| Low weight | yes (16 kg; <3rd %) | no (62 kg) | no (67 kg) | no (25 kg; >90th %) | NA | no (21 kg) |
| ID | mild | mild | mild | mild | mild | mild |
| Microcephaly | mild (50 cm; <10th %) | no (54.5 cm) | yes (53 cm; <3rd %) | no (50 cm) | mild (54 cm; <10th %) | mild (50.3 cm; <10th %) |
| Brain anomalies (MRI) | ACC (rostrum) | NA | NA | no | NA | NA |
| Seizures | no | no | no | no | no | no |
| Delay in walking | yes | NA | NA | yes | NA | no |
| Speech delay | yes | NA | NA | yes | NA | mild |
| Behavioral anomalies | no | no | no | hyperactivity | no | hyperactivity, shy, quiet |
| Vision or eye problems | strabismus, amblyopia | refraction problems | refraction problems | refraction problems | strabismus, amblyopia | NA |
| Ptosis and/or blepharophimosis | yes | yes | yes | yes | yes | yes (bilateral) |
| Hand anomalies | BM, BD | BM, BD | BM, BD | BM, BD | BM, BD | bilateral CD of fifth finger |
| Feet anomalies | clinodactyly, club feet | no | NA | no | no | syndactyly of the second and third toes |
Abbreviations are as follows: %, percentile; ACC, agenesis of corpus callosum; BD, brachydactyly; BM, brachymetacarpia; CD, camptodactyly; MRI, magnetic resonance imaging; NA, information not available; OFC, occipital frontal circumference; and WoG, weeks of gestation.
a
The mutation was absent from all of the available unaffected individuals in family A.