Table 2.
Clinical characteristics of individuals with pathogenic SF3B2 variants.
| Proband ID | 1 | 2 | 3 | 4-1 | 4-2 | 5-1 | 5-2 | 6 |
|---|---|---|---|---|---|---|---|---|
| Inheritance | de novo | dominant (pat) | de novo | Unknowna | Unknowna | de novo | de novo | Unknownb |
| Nucleotide change (GenBank NM_006842.2) | c.2329dupG | c.2480dupC | c.1780-2 A > - | c. 1608dupG | c. 1608dupG | c.1912 C > T | c.1912 C > T | c.307 C > T |
| Amino Acid change | p.D776EfsX4 | p.A827RfsX5 | – | p.R537AfsX24 | p.R537AfsX24 | p.R638X | p.R638X | p. Q103X |
| Gender | Female | Male | Male | Female | Male | Female | Male | Female |
| Age at exam (years) | 17 | 9 | 10 | 12 | 17 | 30 | 28 | 1.5 |
| Weight in Kg (%tile) | 61 (50th −75th) | 38 (90th–98th) | 27 (10th–20th) | 34 (25th) | 82 (90th) | 48 (3rd−10th) | 71 (50th) | 8 (3rd−10th) |
| Height in cm (%tile) | 165 (50th −75th) | 135 (50th–75th) | 135 (20th–30th) | 137 (<3rd) | 156 (<3rd) | 164 (50th) | 178 (50th−75th) | 67 («3rd) |
| OFC in cm (%tile) | 54 (50th) | 52 (20th–40th) | 52 (20th–40th) | 51 (3rd −10th) | 50 (<3rd) | 54 (25th−50th) | 56 (50th) | 42(«3rd) |
| Facial asymmetry | L mild mandibular hypoplasia | R moderate maxillary, mandibular, and zygomatic hypoplasia | R moderate maxillary and mandibular hypoplasia | L moderate maxillary and mandibular hypoplasia; L orbital dystopia | L mild maxillary and mandibular hypoplasia; L orbital dystopia | L maxillary and mandibular hypoplasia, zygomatic hypoplasia | – | – |
| Coloboma | – | – | – | – | – | – | – | Upper eyelid |
| Lateral oral cleft | – | – | R side | L side | – | Bilateral | – | – |
| Temporomandibular joint | – | Absence on R | – | – | – | – | – | – |
| Ear abnormalities | Duplication of tragus on L side | Duplication of tragus on R side | Bilateral hypoplastic tragus | Bilateral microtia I (EAC atresia on L) | Bilateral microtia I | Bilateral microtia I with R absent tragus, EAC atresia, and multiple sinuses | – | – |
| Skin Tags | L, facial | L, complex preauricular (2) | Bilateral, preauricular | L preauricular and facial (multiple) | – | – | L, complex preauricular (multiple) | R, preauricular (2) |
| Hearing (by audiologist test) | Normal | R, conductive HL | Normal | L, conductive HL | Normal | Bilateral conductive HL | Congenital perforation of L tympanic membrane | Normal |
| Ophthalmologic anomalies | Myopia | – | – | Ptosis, corrective lenses | Corrective lenses, amblyopia and strabismus | R epibulbar dermoid | – | R exotropia, hypermetropia, severe ptosis |
| Skeletal anomalies | Bilateral cervical ribs (C7) | Cervical rib on L (C7) | Bilateral cervical ribs (C7) | Scoliosis, Hypoplastic 12th ribs and non-rib bearing lumbar vertebral bodies (4), short toes | Bilateral extra flexion crease on thumbs, knee valgus, pes planus | – | – | L Bifid thumb |
| (No X-ray) | (No X-ray) | (No X-ray) | ||||||
| Cardiac anomalies (Echocardiogram) | Absent L pulmonary artery, aberrant L subclavian artery, R sided aortic arch | NP | None | Multiple muscular VSD | None | NP | NP | NP |
| Kidney anomalies (US) | None | None | None | None | None | NP | NP | NP |
| Other birth defects | – | – | – | Submucous CP, Torticollis, anteriorly placed anus, dry skin, thin hair, scant eyebrows | Premature adrenarche, mild 2-3-4 skin syndactyly of digits | – | – | Mild skin syndactyly of toes |
| Neurodevelopment | Normal | Mild NDD (IEP) | Normal | NDD (IEP) | NDD (IEP) | Normal | Normal | Normal |
OFC occipitofrontal circumference, %tile percentile, R right side, L left side, NS not specified, HL hearing loss, VSD ventricular septal defect, US ultrasound, NDD neurodevelopmental delay, NP not performed, IEP Individualized Education Program, EAC external auditory canal, CP cleft palate.
aFather not tested.
bParents not tested.