Table 3.
Clinical Description of JBTS Individuals with C5ORF42 Mutations
| Genotype |
Family 406/301 |
Family 394 |
Family 474 |
Family 480 |
Family 489 |
Family 479 |
Family 468 |
|||
|---|---|---|---|---|---|---|---|---|---|---|
| IV-1 | IV-2 | IV-3 | II-1 | II-2 | II-1 | II-1 | II-1 | II-1 | II-1 | |
| c.4006C>T (p.Arg1336Trp) | + | − | − | + | + | + | + | − | + | + |
| c.7400+1G>A | + | + | + | + | + | − | + | − | − | − |
| c.6407del (p.Pro2136Hisfs∗31) | − | − | − | − | − | + | − | − | − | − |
| c.7477C>T (p.Arg2493∗) | − | − | − | − | − | − | − | + | − | − |
| c.4804C>T (p.Arg1602∗) | − | − | − | − | − | − | − | − | + | − |
| c.7957+288G>A (c.4690G>A [p.Ala1564Thr]) | − | + | + | − | − | − | − | + | − | + |
| Age (years) | 8 | 1.5 | 3 | 52 | 45 | 4 | 10 | 7 | 13 | 31 |
| Sex | F | M | F | F | M | F | M | M | F | F |
| Developmental delay | + | + | + | + | + | + | + | + | + | + |
| Oculomotor apraxia | − | + | + | + | + | + | + | + | + | + |
| Breathing abnormality | + | + | + | + | + | + | + | + | − | − |
| Limb abnormalitya | − | + | − | − | − | + | − | − | − | − |
| Brain MRI | MTS | MTS | MTS | ND | MTS | MTS | MTS | MTS | MTS | MTS |
| Retinal involvementb | − (f) | − (e) | − (e) | − (h) | − (h) | − (f) | − (e) | − (e) | − (f) | − (h) |
| Renal involvementc | − (us) | − (us) | − (us) | − (h) | − (h) | − (us) | − (us) | − (us) | − (us) | − (h) |
The nucleotide and amino acid positions are based on reference sequence NM_023073.3 except for c.4690G>A (p.Ala1564Thr), which is based on Ensembl transcript ENST00000509849. The following abbreviations are used: F, female; M, male; MRI, magnetic resonance imaging; MTS, molar tooth sign; ND, not done; f, fundoscopy; e, electroretinogram; h, history; and us, ultrasound.
Individual IV-2 from family 406/301 has a 3/4 syndactyly in the left hand and individual II.1 from family 474 has preaxial and postaxial polydactyly of the four limbs. Individual II-1 from family 394 did not undergo an MRI, but the MRI of her brother (individual II-2 from family 394) documented a MTS.
Lack of retinal involvement was determined by electroretinogram, fundoscopy, or history.
Lack of renal involvement was determined by renal ultrasound or history.