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