Table 1 Phenotype–genotype correlation in CHH probands with CHD7 RSVs
Pt | Initial Dx | CHD7 RSVs | Other pathogenic variants | CHARGE features | Other phenotypes | Final Dx | ACMG criteria | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Major | Minor | ||||||||||||||
C | A | SCC | RED | E | ID | MO | HPD | ||||||||
1 | KS | p.R2428* | − | + | − | + | − | − | − | + | + | Nasal cartilage distortion | CHARGE | P | |
2 | KS | p.Y1412D | − | − | + | + | + | + | − | − | + | Oval palate | CHARGE | LP | |
3 | KS | p.C989Y | − | + | − | − | + | + | − | − | + | Atropy of optic chiasma | Atypical CHARGE | LP | |
4 | KS | p.A1107V | − | − | − | + | − | − | − | + | + | See Table 2 | KS | LP | |
5 | KS | p.F1019C | SEMA3E p.R619C | − | − | U | − | − | − | − | + | Dental defects | KS | LP | |
6 | KS | p.A2730T | FGFR1 p.R365Kfs*5 | − | − | − | + | − | + | − | + | Optic nerve atrophy, CLP, CC agenesis | KS | US | |
7 | KS | p.Y1616C | SEMA3A p.R66W | − | − | − | + | − | − | − | + | − | KS | US | |
8 | nCHH | p.Y1325H | − | − | − | − | − | − | − | + | + | − | nCHH | US | |
9M | KS | p.D1638E | − | − | − | − | − | − | − | M | + | Synkinesia, dental defect | KS | US | |
10 | nCHH | c.2613+5G>A | FGFR1 p.S436Ffs*3 | − | − | − | − | − | − | − | + | Skeletal defect | nCHH | US | |
11 | nCHH | p.Q2833E | − | − | − | U | − | − | − | − | + | − | nCHH | US | |
12 | nCHH | p.M340V | − | − | − | − | − | − | + | − | + | − | nCHH | B | |
13 | nCHH | p.M340V | GNRHR p.[L89*];[L117R] | − | − | − | − | − | − | − | + | Dental defect, astigmatism | nCHH | B | |
14 | KS | p.S466L | − | − | − | U | − | − | − | − | + | − | KS | B | |
15 | nCHH | p.R2400Q | − | − | − | − | − | − | − | − | + | − | nCHH | LB | |
16 | nCHH | p.M2527L | − | − | − | − | − | − | − | − | + | Dental defect, astigmatism | nCHH | LB | |
17 | KS | p.L2806V | FGFR1 p.Tyr654* | − | − | − | − | − | − | − | + | − | KS | B | |
