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Table 1 Clinical features of patients with biallelic ERBB3 mutations

From: Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

 This studyLandau et al.(Ref. [9])Alfares et al. (Ref. [12])
Variantc.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 patients1231
Birth conditionsFetal intrauterine distress, normal birth weightAll newborns were small or borderline adequate for gestational ageNo data
Facial malformationsHigh forehead, sparse hair and eyebrow, hypertelorism, ptosis, depressed nasal bridge, bulbous nasal tip, low-set ears, right oblique corner of the mouth, micrognathia8 cases with micrognathia, 2 cases with cleft palate, and one with anisocoriaNo data
Skeletal deformities
 Multiple joint contracture23/23No data
 Hip dislocation2/23+
 Knee dislocation+
 Asymmetrical limbs+No data
Kidney malformationHydronephrosis and cystic changes of the kidneys in 5 casesNo data
Enlarged urinary bladder12/23No data
Cardiac malformationAtrioventricular canal malformation2 cases with VSD and one with dilated cardiomyopathyNo data
Ophthalmologic problemsNystagmus, amblyopiaHigh myopia and degenerative vitreoretinopathy in two patientsNo data
Respiratory problemsRecurrent respiratory infectionRespiratory insufficiency in 15 casesNo data
Developmental delay+No dataNo data
Transient liver damage+No dataNo data
ImmunodeficiencyIgA deficiencyNo dataNo data
Anemia+No dataNo data
Feeding difficulties+No dataNo data
Clinical outcomeStill 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
  1. Hom Homozygote, Het Heterozygote, VSD ventricular septal defect