Summary of key phenotypic features of patients tested for PLCB4 and GNAI3 mutations in the present report, and their respective genotypes
| Publication | Initial diagnosis | Gender | QME | Other auricular dysplasia | PoAT or PrAT | Micro- and/or retrognathia | Facial asymmetry | ED, CVD or CHD | Other phenotypes | Mutation | Inheritance | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case 1 | Shkalim, 2008 | Isolated QME | F | + | − | − | − | − | − | − | PLCB4, Glu358Val | Familial, AD |
| Case 2 | Stuffken, 2008 | DC (ACS) | F | + | − | − | + | − | − | − | PLCB4, Asp360Asn | ? |
| Case 3 | Greig, 2012 (case 2) | ACS | M | + | − | − | + | − | − | − | PLCB4, Asp360Val | Sporadic, AD |
| Case 4 | Gerkes, 2008 | ACS | M | + | − | PoAT | + | − | − | − | PLCB4, Arg621Cys | Sporadic, AD |
| Case 5 | Present report | ACS | F | + | − | PoAT | + | − | − | − | PLCB4, Arg621Leu | Familial, AD |
| Case 6 | Present report | ACS | M | + | − | − | + | − | − | Hypotonia | PLCB4, Arg621His | Sporadic, AD |
| Case 7 | Present report | ACS | F | + | − | − | + | + | − | − | GNAI3, Ser47Arg | Familial, AD |
| Case 8 | Present report | ACS | M | + | − | PoAT | + | − | − | Central apnoea, macropenis | PLCB4, IHD | Sporadic, AR |
| Case 9 | Rieder, 2012 (case M003) | ACS | M | + | − | PoAT | + | − | − | Hamartomatous pedicles, CP | PLCB4, Arg621Cys | Familial, AD |
| Case 10 | Present report | ACS | M | + | + | − | + | − | − | Bifid uvula, laryngeal cleft | − | Familial, AR? |
| Case 11 | Present report | Isolated QME | F | + | − | − | − | − | − | − | − | Familial, AD |
| Case 12 | Present report | Isolated QME | F | + | − | − | − | − | − | − | − | Familial, AD |
| Case 13 | McGowan, 2011 (case 1) | GS then ACS | F | − | + | PrAT | + | − | − | Microcephaly, CP, HL | − | Sporadic, AD |
| Case 14 | McGowan, 2011 (case 3) | GS then ACS | F | − | + | PrAT | + | + | − | HL | − | Sporadic, AD |
| Case 15 | McGowan, 2011 (case 4) | TCS then ACS | F | − | + | PrAT | + | + | − | HL | − | Familial, AD |
| Case 16 | McGowan, 2011 (case 5) | ACS | F | − | + | PrAT | + | + | − | − | − | Familial, AD |
| Case 17 | McGowan, 2011 (case 6) | ACS | M | − | + | PrAT | + | + | − | Macroglossia | − | Familial, AD |
| Case 18 | Present report | OAVS/GS | F | − | + | PrAT | + | + | ED, CVD, CHD | − | − | Sporadic, AD |
| Case 19 | Present report | OAVS/GS | M | − | + | PrAT | + | + | ED | HL | − | ? |
| Case 20 | Present report | OAVS/GS | F | − | + | PrAT | + | + | CVD, CHD | Eyelid coloboma, FP | − | Sporadic, AD |
| Case 21 | Present report | OAVS/GS | M | − | + | − | − | − | CHD | Cryptorchidism, FP | − | Sporadic, AD |
| Case 22 | Present report | OAVS/GS | M | − | + | PrAT | + | − | ED, CVD, CHD | Renal hypoplasia | − | Sporadic, AD |
| Case 23 | Present report | OAVS/GS | M | − | + | PrAT | − | + | CHD | − | − | Sporadic, AR? |
| Case 24 | Present report | ? | M | − | + | − | + | − | − | CP, HL | − | Sporadic, AD |
| Case 25 | Present report | ? | M | − | + | − | − | − | − | − | − | ? |
| Case 26 | Present report | ? | M | − | + | ? | ? | ? | ? | ? | − | ? |
| Case 27 | Present report | ? | M | − | + | − | + | − | − | Absent uvula | − | Familial, AD |
Note that phenotypic information is only provided for the proband of familial cases. ACS, auriculocondylar syndrome; AD, autosomal dominant; AR, autosomal recessive; CHD, congenital heart defect; CP, cleft palate; CVD, cervical vertebral defect; DC, dysgnathia complex; ED, epibulbar dermoid; FP, facial paralysis; GS, Goldenhar syndrome; HL, hearing loss; IHD, intragenic homozygous deletion; OAVS, oculoauriculovertebral spectrum; PoAT, postauricular tag; PrAT, preauricular tag(s); QME, question mark ears; TCS, Treacher Collins syndrome; ?, no information available.