Table 1 Clinical features of patients with biallelic ERBB3 mutations
| Â | This study | Landau et al.(Ref. [9]) | Alfares et al. (Ref. [12]) |
|---|---|---|---|
Variant | c.1253 T > C; p.Ile418Thr (Het) and c.3182dupA; p.Asn1061Lysfs*16 (Het) | c.1184-9A > G (Hom) | c.3425C > T; p.Pro1142Leu (Hom) |
No. of patients | 1 | 23 | 1 |
Birth conditions | Fetal intrauterine distress, normal birth weight | All newborns were small or borderline adequate for gestational age | No data |
Facial malformations | High forehead, sparse hair and eyebrow, hypertelorism, ptosis, depressed nasal bridge, bulbous nasal tip, low-set ears, right oblique corner of the mouth, micrognathia | 8 cases with micrognathia, 2 cases with cleft palate, and one with anisocoria | No data |
Skeletal deformities | |||
 Multiple joint contracture | – | 23/23 | No data |
 Hip dislocation | – | 2/23 | + |
 Knee dislocation | – | – | + |
 Asymmetrical limbs | + | – | No data |
Kidney malformation | – | Hydronephrosis and cystic changes of the kidneys in 5 cases | No data |
Enlarged urinary bladder | – | 12/23 | No data |
Cardiac malformation | Atrioventricular canal malformation | 2 cases with VSD and one with dilated cardiomyopathy | No data |
Ophthalmologic problems | Nystagmus, amblyopia | High myopia and degenerative vitreoretinopathy in two patients | No data |
Respiratory problems | Recurrent respiratory infection | Respiratory insufficiency in 15 cases | No data |
Developmental delay | + | No data | No data |
Transient liver damage | + | No data | No data |
Immunodeficiency | IgA deficiency | No data | No data |
Anemia | + | No data | No data |
Feeding difficulties | + | No data | No data |
Clinical outcome | Still alive (24-month old) | 2 girls alive at 12 and 13 years old, respectively; 17 died from soon after birth to 1 year old. | No data |