Skip to main content

Table 1 Clinical features of reported auriculocondylar syndrome (ACS) cases with GNAI3 (NM_0064) mutations

From: Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report

  c.118G > C
p.Gly40Arg
c.134G > T
p.Gly45Val
c.140G > A
p.Ser47Asn
c.141C > A
p.Ser47Arg
c.143C > A
p.The48Asn
c.805A > T
p.Asn269Tyr
c.807C > A
p.Asn269Lys
Summary
Publications Rieder 2012 (S008) Erlich 2000;
Rieder 2012 (S011)
Propst 2013; Romanelli Tavares 2015 (SP1) This study Gordon 2013 (Case 7) Tavares 2015 (SP2) Guion-Almeida 2002 (Patient 1); Masotti 2008 (F2); Romanelli Tavares 2015 (ACS1) Yanagi 2021  
Familial/sporadic Familial Familial Sporadic Sporadic Familial Sporadic Familial Sporadic 1:1
Individuals with mutation 2 (1 F; 1 M) 2 (2 F, 0 M) 1 (M) 1 (F) 2 (1 F, 1 M) 1 (M) 9 (4 F, 5 M) 1 (F) 19 (10 F, 9 M)
Penetrant patients 1/2 2/2 1/1 1/1 2/2 1/1 8/9 1/1 17/19 (89.47%)
Proband sex F F M F F M F F 8 (6 F, 2 M)
MANDIBLE
 Micrognathia 1/2 2/2 1/1 1/1 2/2 1/1 6/9 1/1 15/19 (78.95%)
 Condyle hypoplasia 1/2 2/2 1*/1 1/1 2*/2 1*/1 2/9 1/1 11/ 19 (57.89%)
EAR
 Auricular malformation 1/2 2/2 1*/1 0/1 1#/2 1#/1 6/9 1/1 13/19 (68.42%)
 Hearing loss NA 2/2 1/1 NA 0/2 1/1 2/9 1/1 7/16 (43.75%)
MOUTH
 Microstomia 1/2 2/2 1/1 NA 2/2 1/1 4/9 1/1 12/18 (66.67%)
 Glossoptosis 1/2 2/2 1/1 NA 0/2 1/1 2/9 1/1 8/18 (44.44%)
 Abnormal palate NA 2/2 1a/1 NA 0/2 1b/1 1/8 0/1 5/15 (33.33%)
FACE
 Prominent cheeks 1/2 2/2 1/1 1/1 2/2 1/1 3/9 1/1 12/19 (63.16%)
 Round faces 1/2 2/2 1/1 1/1 2/2 1/1 2/9 1/1 11/19 (57.89%)
 Asymmetry 0/2 0/2 0/1 0/1 2*/2 1*/1 0/9 0/1 3/19 (15.79%)
OTHER
 Respiratory distress 1&/2 2&/2 1/1 NA NA 1/1 2&/9 1&/1 8/16 (50%)
 Feeding difficulties 1&/2 2&/2 1/1 NA NA 1/1 1&/9 1&/1 7/16 (43.75%)
PRENATAL$
 Polyhydramnios NA 1/1 NA 1/1 NA NA 1/1 NA 3/3 (100%)
 Micrognathia NA 1/1 NA 1/1 NA NA 0/1 NA 2/3 (66.67%)
  1. Abbreviations: M male; F female; NA not reported
  2. *: More severe on the right; #: right ear only; &: severe cases with tracheostomy or gastrostomy; $: evaluated only in the proband; a: high-arched palate; b: bifid uvula