Table 2 Characteristic of the studies of genetics involved in microtia
From: Genotype-phenotype associations in microtia: a systematic review
No. | First author’s surname/country of origin/year of publication | Study design | Sample size | Syndrome | Related Gene | Genetic level of disorder | Mutation type – DNA / RNA Chromosome | Homozygous / Heterozygous | Inheritance | Sequencing System |
|---|---|---|---|---|---|---|---|---|---|---|
1. | Gimelli/Italy/ 2013 [50] | CR | 1 | TCS : 1 | SPATA7 : 1 | Chromosome | Interstitial deletion | Heterozygous | Autosomal Recessive | Array CGH |
2. | Glaeser/Brazil/ 2021 [51] | CR | 1 | CES, OAVS, CFM | BCL2L13 : 1; BID : 1; CECR1 : 1; CECR2 : 1; CECR4 : 1; CECR5 : 1; CECR6 : 1; CECR7: 1; FLJ 41941 : 1; HSFY1P1 : 1; IL17RA: 1; MICAL3 : 1; MIR 3198 : 1; MIR648 : 1; PEX26 : 1; SLC25A18: 1; TUBA8e: 1; XKR3 : 1 | Chromosome | Inverted duplication | Heterozygous | Mitochondrial | Whole Genome Array CGH |
3. | Tassano/Italy/2015 [52] | CR | 1 | - | FOXI3 : 1 | Chromosome | Interstitial deletion | Homozygous | Autosomal Dominant | PCR |
4. | Chaves/Brazil/ 2019 [53] | CR | 1 | - | BBS4 : 1 | DNA | Duplication | Homozygous | Autosomal Recessive | Microarray |
5. | Huang/China/2013 [54] | CR | 1 | CFM | PLA2G4A : 1; C1orf99 : 1 | Chromosome | Duplication | Heterozygous | Autosomal Recessive | G-banded chromoso me analysis |
6. | Kim/South Korea/2020 [55] | CR | 1 | MFDM | EFTUD2 : 1 | DNA | Deletion | Heterozygous | Autosomal Dominant | Sanger sequencing Minigene Assay |
7. | Goldmuntz/Philadelphia/2011 [56] | CR | 1 | CFM | NRP1 : 1 | DNA | Deletion | Heterozygous | Autosomal Dominant | PCR |
8. | Brun/France/2012 [57] | CR | 1 | 15q24 deletion Syndrome, OAVS, CFM | STRA6 : 1; and other unexplained 36 genes involved | Chromosome | Deletion | Heterozygous | Autosomal Recessive | Array CGH |
9. | Koprulu/Turkey/2021 [58] | CR | 1 | FRASRS1: 1 | GRIP1 : 1 | DNA | Deletion | Homozygous | Autosomal Recessive | Sanger sequencing |
10. | Hu/America/2019 [59] | CR | 1 | - | FGFR1 : 1 | DNA | - | Heterozygous | Autosomal Dominant | NGS |
11. | Jarzabek/Poland/2012 [60] | CR | 1 | Kallmann Syndrome: 1 | FGFR1 : 1 | DNA | - | Homozygous | Autosomal Dominant | Sanger technique |
12. | Knapp/Maryland/202 0 [61] | CR | 1 | MGORS: 1 | DONSON : 1 | DNA | - | Heterozygous | Autosomal Recessive | Chromium WGS sequencing |
13. | Saviola/Italy/2021 [62] | CR | 1 | CSS1: 1 | ARID1A : 1 | DNA | - | Heterozygous | Autosomal Dominant | NGS and PCR |
14. | Lacour/New Orleans/2018 [63] | CR | 1 | MFDM:1 CFM: 1 | EFTUD2 : 1 | DNA | - | Heterozygous | Autosomal Dominant | WES |
15. | Bragagnolo/Brazil/2016 [64] | CR | 1 | WHS: 1 | - | Chromosome (4p-deletion syndrome) | Deletion | Heterozygous | Autosomal Dominant | FISH, CGH, PCR |
16. | Knapp/New Zealand/20201 [43] | CR | 1 | MGORS: 1 | CDT1 : 1 | RNA | Deletion | Heterozygous | Autosomal Recessive | PCR |
17. | Liu/China/2021 [15] | CR | 1 | TCS: 1 | TCOF1 : 1 | DNA | Nonsense Mutation | Heterozygous | Autosomal Dominant | WES Sureselect XT Target Enrichment system, Microarray, Sanger Sequencing |
18. | Maya/Israel/2020 [65] | CR | 1 | CCA: 1 | - | Chromosome | Deletion | Heterozygous | Autosomal Dominant | MicroArray |
19. | Okamoto/Japan/2022 [21] | CS | 2 | - | MARS1 : 2 | RNA : 2 | Missense : 2 | Heterozygous | Autosomal Recessive | WES Sanger sequencing |
20. | Brophy/Iowa USA/2013 [66] | CS | 3 | BOR: 3 | EYA1 : 1 | Chromosome: 3 | Deletion : 2 Duplication:1 | Heterozygous | Autosomal Dominant | Array Based CGH |
21. | Bukowska/Poland/2020 [22] | CS | 3 | TCS : 3 | TCOF1 : 3 | DNA : 3 | Duplication: 2 Deletion: 1 | Heterozygous | Autosomal Dominant | Sanger Sequencing |
22. | Tingaud- Sequeira/France/2021 [67] | CS | 2 | Goldenhar Syndrome: 2 CFM: 1 | EYA3 : 2 | DNA : 2 | Missense : 2 | Heterozygous | Autosomal Dominant | WES |
23. | Kim/South Korea/2017 [68] | CS | 2 | - | CDT1 : 2 | DNA : 2 | Duplication: 2 | Heterozygous | Autosomal Recessive | Sanger sequencing |
24. | Jung/New York/2020 [34] | CS | 4 | - | FANCB variant: 4 | DNA : 4 | Large deletion: 1 Insertion & Deletion: 1 Missense:1 Nonsense: 1 | Heterozygous | X-linked Recessive | RT-PCR |
25. | Su/Taiwan/2007 [14] | CS | 5 | OAVS: 4 TCS: 1 CFM: 3 | TCOF1 : 5 | DNA : 4 | Silent mutation: 2 | Heterozygous | Autosomal Dominant | PCR |
26. | Chen/China/2017 [17] | CS | 19 | TCS: 19 | TCOF1 : 19 | DNA : 18 | Deletion: 11 Insertion: 1 Missense: 2 | Heterozygous | Autosomal Dominant | PCR, Sanger Technique |
27. | Royer- Bertrand/Switzerland/ 2015 [20] | CS | 3 | EVPLS: 3 | HSPA9 : 3 | DNA : 3 | - | Homozygous | Autosomal Recessive | Sanger sequencing |
28. | Zhang/China/2016 [69] | CH | 984 | 984 CFM, unspecifie d | ART3 : 1; ASB18 : 1; C15orf39 : 1; CCDC33 : 1; CSK : 1; CSPG4 : 1; CYP11A1 : 1; DBF4B : 1; FMNL1 : 1; FRMD4A : 1; FRMD6 : 1; GATA3 : 1; GFAP : 1; GJC1: 1; GOLGA6A : 1; HEXIM2 : 1; IGHMBP2 : 1; ISLR : 1; ISLR2 : 1; KLF12 : 1; LOC10099651 5 : 1; MYEOV: 1; NPAP1 : 1; PLCD3 : 1; PML : 1; PRKCE : 1; SCARB2 : 1; SHROOM3 : 1; SOCS5 : 1; SRBD1 : 1; TMEM247 : 1 | - | Missense: 29 Frameshift: 2 | Heterozygous | Autosomal Dominant | PCR |
29. | Monks/United Kingdom/2010 [70] | CC | 12 | - (isolated microtia) | SIX2 : 3 HOXA2 : 2 | DNA : 5 | - | Heterozygous | SIX2 : Autosomal Dominant HOXA2 : Autosomal Recessive | MassARRAY Assay |
30. | Zhang/China/2009 [31] | CC | 121 | - (isolated microtia) | Gsc Exon 2 : 6 Gsc Exon 3 : 2 BMP 5 maternal peptide : 1 | DNA: 8 RNA: 1 | Silent mutation: 6 Missense: 3 | Heterozygous | Gsc Exon 2&3: Autosomal Recessive BMP 5 maternal peptide : Autosomal Dominant | Direct sequencing |