Table 1 Clinical manifestations and identified mutations
Pedigree | 1 | 2 | 3 | 4 | |||
|---|---|---|---|---|---|---|---|
Patient ID | II:1 | II:1 | I:2 | II:1 | I:2 | II:1 | |
Sex | F | F | F | M | F | F | |
Age on examination | 32 | 14 | 37 | 11 | 36 | 9 | |
DNA change | c.2115dupG | c.2142+23_2142+52 del | c.136C>G | c.1719del | |||
Protein change | p.T706DfsTer52 | p.A715VfsTer31 | p.L46V | p.N574TfsTer22 | |||
Location | Exon 12 | Intron 12 | Exon 2 | Exon 11 | |||
Mutation type | Frameshift | Splicing | Missense | Frameshift | |||
SIFT/Polyphen- 2/CADD | / | / | D/PD/P | / | |||
ACMG classification | PVS1+PM2_Supporting+PP4 | PM2_Supporting+PP4 | PM2_Supporting+PP4 | PVS1+PM2_Supporting+PM6+PP4 | |||
Reference | Novel | Novel | Chen et al. [19] | Zhang et al.[20] | |||
Medical history | Family history | – | + | + | + | + | – |
Intubation or tracheostomy | – | – | – | – | – | – | |
Nasogastric tube or gastrostomy | – | – | – | – | – | – | |
Plastic surgery | + | + | – | + | – | – | |
Hearing rehablitation or cholesteatoma removal | + | + | – | – | + | – | |
Face | Mandibular hypoplasia | + | + | + | + | + | + |
Malar hypoplasia | + | + | + | + | + | + | |
Asymmetry | – | – | + | + | – | + | |
Eye | Downward-slanting palpebral fissures | + | + | + | + | + | + |
Coloboma of the lower lid | + | + | + | + | + | + | |
Strabismus | – | – | – | – | – | + | |
Ear | Hearing loss | + | + | + | + | + | + |
Atresia/stenosis of EAC | + | + | – | + | – | + | |
auricle malformation | + | + | + | + | + | + | |
Other | Preauricular hair displacement | + | + | + | + | + | – |
Cleft palate | – | – | – | – | – | – | |
Macrostomia | – | – | – | – | – | + | |
Choanal stenosis/atresia | – | – | – | – | – | – | |
Development | Short stature | – | + | + | – | – | – |
Delayed speech development | – | – | – | + | – | – | |