Table 9 Genes related syndromic and non-syndromic microtia
From: Genotype-phenotype associations in microtia: a systematic review
Non-Syndromic Genes | n | % |
Gsc Exon 2 | 6 | 25.00% |
FANCB variant | 4 | 16.67% |
HOXA2 | 2 | 8.33% |
Gsc Exon 3 | 2 | 8.33% |
MARS1 | 2 | 8.33% |
CDT1 | 2 | 8.33% |
FGFR1 | 1 | 4.17% |
NRP1 | 1 | 4.17% |
FOXI3 | 1 | 4.17% |
BBS4 | 1 | 4.17% |
PLA2G4A & C1orf99 | 1 | 4.17% |
BMP 5 | 1 | 4.17% |
Total | 24 | 100.00% |
Syndromic Microtia Genes | n | % |
TCOF1 | 28 | 43.75% |
SIX2 | 3 | 4.69% |
HSPA9 | 3 | 4.69% |
EYA3 | 2 | 3.13% |
FGFR1 | 1 | 1.56% |
EYA1 | 1 | 1.56% |
SPATA7 | 1 | 1.56% |
XKR3 | 1 | 1.56% |
HSFY1P1 | 1 | 1.56% |
GAB4 | 1 | 1.56% |
CECR7 | 1 | 1.56% |
IL17RA | 1 | 1.56% |
CECR6 | 1 | 1.56% |
CECR5 | 1 | 1.56% |
CECR4 | 1 | 1.56% |
CECR1 | 1 | 1.56% |
CECR2 | 1 | 1.56% |
SLC25A18 | 1 | 1.56% |
BCL2L13 | 1 | 1.56% |
MIR3198 | 1 | 1.56% |
MICAL3 | 1 | 1.56% |
MIR648 | 1 | 1.56% |
FLJ41941 | 1 | 1.56% |
PEX26 | 1 | 1.56% |
TUBA8 e USP18 | 1 | 1.56% |
EFTUD2 | 1 | 1.56% |
STRA6 | 1 | 1.56% |
GRIP1 | 1 | 1.56% |
DONSON | 1 | 1.56% |
ARID1A | 1 | 1.56% |
EFTUD2 | 1 | 1.56% |
CDT1 | 1 | 1.56% |
Total | 64 | 100.00% |