Table 1 Phenotypes and variants in patients with typical BOR syndrome.
From: Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
Family no. | Patient no. | Sex | FM with typical BOR | FM with atypical BOR | HL | BA | PP | RA | AD | Other clinical findings | Nucleotide change$ | Protein change$ | Pathogenicity | Variant inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | III-3 | F | − | − | + | + | − | + | + | NT | c.1050+3G>T | (Splice site variant) | Likely pathogenic | De novo | This study |
2 | IV-1 | M | + | − | + | + | + | − | − | NT | rsa 8q13.3(EYA1exon10-18) × 1& | Unknown | Likely pathogenic | I | Unzaki et al.7 |
III-3 | F | + | + | + | − | − | IEA✝, MEA | U | |||||||
3 | III-1 | F | + | − | + | + | + | − | − | IEA✝, MEA | c.1141-1G>A | (Splice site variant) | Pathogenic | U | Sanggaard et al.29 |
4 | IV-2 | M | + | − | + | + | + | − | − | NT | c.1766dup | p.Glu590Glyfs*42 | Likely pathogenic | I | Matsunaga et al.30 |
III-2 | M | + | − | + | − | − | NT | U | |||||||
5 | III-2 | F | + | − | + | + | + | − | − | IEA*✝ | c.1054_1055insG | p.Pro352Argfs*26 | Pathogenic | I | This study |
II-6 | F | + | + | + | − | − | NT | U | |||||||
6 | II-2 | F | + | − | + | − | + | − | + | FA, MEA, IEA✝ | rsa 8q13.3(EYA1exon2-3) × 1 | Unknown | Likely Pathogenic | I | Unzaki et al.7 |
III-2 | M | + | − | + | − | + | EEA | I | |||||||
I-2 | F | + | − | − | + | − | NT | U | |||||||
7 | II-1 | F | − | − | + | + | + | − | − | PT, IEA✝ | rsa 8q13.3(EYA1exon2-12) × 1 | Unknown | Pathogenic | U | Unzaki et al.7 |
8 | III-1 | F | + | − | + | + | + | − | − | - | rsa 8q13.3(EYA1exon10-18) × 1 | Unknown | Likely pathogenic | I | Unzaki et al.7 |
II-2 | M | + | + | + | − | − | NT | U | |||||||
9 | III-3 | M | − | − | + | + | − | − | + | MEA | None detected | None detected | – | – | – |
10 | III-1 | F | − | − | + | − | + | + | − | EEA, IEA✝, MEA | None detected | None detected | – | – | – |
11 | II-1 | F | − | − | + | − | + | + | − | IEA*✝ | None detected | None detected | – | – | – |
12 | III-2 | F | + | − | + | + | + | + | − | IEA*✝, MEA | c.979T>G | p.Trp327Gly | Likely pathogenic | U | This study |
13 | III-2 | F | + | − | + | + | + | + | + | IEA*✝, MEA | c.1487_1488delTG | p.Val496Glufs*35 | Pathogenic | I | This study |
III-1 | M | + | + | + | − | + | IEA✝, MEA | I | |||||||
II-3 | F | + | + | + | − | − | NT | U | |||||||
14 | III-1 | M | − | − | + | + | − | − | − | IEA✝, MEA | c.1319G > A | p.Arg440Gln | Likely pathogenic | De novo | Kumar et al.31 |
