TABLE 2.
Summary of previous genetic studies of hemifacial microsomia.
| Study | Mutated gene(s) symbol | Abnormal chromosomal region(s)/chromosome abnormality | Mutation type | Utilized analysis method |
| Bragagnolo et al., 2018 | HMX-1, BAPX1, EYA1, PUF60, NRBP2, SCRIB, GATA3, ATR-16, NF1, PRKX, RAS2 | 4p16.1, 4p16.3p15.33, Xp22.33–p22.31, 22q11.21, 8q13.3, 8q24.3, 10q26.2q26.3, 10p13p14, 16p13.3, 16p13.11p12.3, 17q11.2, Xp22.33 | CNV (dup/del) | Karotyping with G-banding, CMA |
| Spineli-Silva et al., 2018 | YPEL1, MAPK1, ERK2, GSC2 | 22q11.2 | CNV (del) | MLPA, CMA |
| Berenguer et al., 2017 | MYT1 | 20q13.33 | SNV (c.323C>T, p.Ser108Leu) | SNP array |
| Lopez et al., 2016 | MYT1 | 20q13.33 | SNV (c.314C > T, p.Ser105Leu) | WES, transient knockdown in zebrafish |
| Colovati et al., 2015 | ZNF74, KLHL22, MED15, SNAP29, LZTR1 | 22q11.21 | CNV (del) | Genomic array analysis, MLPA |
| Zhang et al., 2016 | ROBO1, GATA3, EPAS1, PARD3B, GBX2, SHROOM3, FRMD4A, FGF3, KLF12, EDNRB, NID2, SEMA7A, PLCD3 | 3p12.3, 10p14, 2p21, 2q33.3, 2q37.2, 4q21.1, 10p13, 11q13.3, 13q22.1, 13q22.3, 14q22.1, 15q24.1, 17q21.31 | UK | SNP, GWAS, GRAIL, DEPICT, qPCR, WGS |
| Beleza-Meireles et al., 2015 | Not determined | 22q11 | CNV (dup/del) | aCGH |
| Guida et al., 2015 | ATP13A3, XXYLT1 | 3q29 | CNV (dup) | SNP array |
| Zielinski et al., 2014 | OTX2 | 14q22.3 | CNV (dup) | WES, SNP array |
| Torti et al., 2013 | Not determined | 22q11.2 | CNV (dup/del) | aCGH, FISH |
| Ballesta-Martinez et al., 2013 | OTX2 | 14q23.1 | CNV (dup) | Linkage analysis in families with autosomal dominant inheritance, aCGH |
| Quintero-Rivera and Martinez-Agosto, 2013 | Not determined | 22q11.1–q11.21 | CNV (tetrasomy) | FISH, aCGH |
| Su et al., 2012 | TCOF1 | 5q32–q33.1 | UK | PCR, direct sequencing |
| Rooryck et al., 2010 | IQSEC3, SLC6A12, SLC6A13, JARID1A, CCDC77, B4GALNT3, NINJ2, WNK1, HSN2, RAD52, ERC1, FBXL14, WNT5B, ADIPOR2, CACNA2D4, LRTM2, DCP1B, CACNA1C, SPRY2 | 12p13.33, 47, XXX, Yp–q11.221. Yq11.222–q12, t(9;18) (p23;q12,2), 13q13.1 | CNV (del/dup/trisomy/translocation) | aCGH, QMF-PCR |
| Northup et al., 2010 | Not determined | inv(14) (p11.2q22.3) | CNV (inversion) | FISH |
| Huang et al., 2010 | BIR1C, OCLN | 5q13.2 | CNV (del) | Illumina HumanCNV370 Genotyping BeadChip, qPCR |
| Rooryck et al., 2009 | WNT5B, CACNA1C | del(12) (pter/p13.33) | CNV (del) | aCGH, QMF-PCR |
| Alasti and Van Camp, 2009 | BAPX1, GSC, Hfm | 4p15.33, 14q32.13, 14q32 | UK | Review |
| Ala-Mello et al., 2008 | Not determined | 5p15.3–pter, 21q22.3–qter, 21q22.11q22.12. | CNV (del/dup) | FISH, aCGH |
| Ou et al., 2008 | SIX1, SIX6, OTX2 | 14q22.3–q23.3; 13q21.31-q21.32 | CNV (del/dup) | Karotyping, FISH, aCGH |
| Kosaki et al., 2007 | SALL1 | 16q12.1 | SNV (c.1256T > A, p.L419X) | PCR, direct sequencing |
| Zhu et al., 2007 | ZIC3 | Xq26.3 | UK | Analysis of Zic3 null mice |
| Terhal et al., 2006 | SALL4 (exon 3) | 20q13.2 | UK | PCR, direct sequencing |
aCGH, array-based comparative genomic hybridization; CMA, chromosomal microarray analysis; CNV, copy number variation; del, deletion; DEPICT, data-driven expression-prioritized integration for complex traits; dup, duplication; FISH, fluorescence in-situ hybridization; GRAIL, gene relationships across implicated loci; GWAS, genome-wide association study; MLPA, multiplex ligation-dependent probe amplification; PCR, polymerase chain reaction; QMF-PCR, quantitative multiplex fluorescence-PCR; qPCR, quantitative PCR; SNP, single nucleotide polymorphism; SNV, single nucleotide variant; UK, unknown; WES, whole-exome sequencing; WGS, whole-genome sequencing. XXX means XXX syndrome, also known as Triple X syndrome, and trisomy X, which is a rare and genetic disease. It is characterized by the presence of an extra X chromosome in each cell of a female.