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. Author manuscript; available in PMC: 2017 Jul 15.
Published in final edited form as: Dev Biol. 2016 Jan 22;415(2):171–187. doi: 10.1016/j.ydbio.2016.01.017

Table 3.

Recent examples of “human to animal” craniofacial studies

A select list of recent (since 2010) studies in which, first a genetic lesion is detected in a human patient with either a syndromic or non-syndromic craniofacial condition and secondarily an animal model is utilized in the same study to further understand the consequences of that lesion on craniofacial development.

Disorder Mutation identification approach Gene(s) Model organism Assays
Syndromic cleft palate and micrognathia GTG-banded karyotyping, whole- genome sequencing CAPZB zebrafish Z - exp, LOF (insertional mutant), GOF (mRNA)
Acrofacial Dysostosis - Cincinnati Type Whole exome sequencing, Sanger sequencing POLR1A zebrafish Z - exp, LOF (insertional mutant)
Mandibulofacial Dysostosis with Alopecia Trio whole exome sequencing EDNRA zebrafish, mouse Z - LOF (MO), GOF (mRNA); M - exp
Nonsyndromic cleft lip w/ or w/o cleft palate (NSCL/P) Targeted whole-genome sequencing FGFR2 (+others) zebrafish Z - NCE-exp
Isolated cleft lip and palate (CLP) Non-coding enhancer analysis FOXE1 zebrafish, mouse Z - NCE-exp; M - NCE-exp
Van der Woude syndrome Family-based linkage, whole exome sequencing GRHL3 zebrafish, mouse Z - GOF (dn-mRNA); M - LOF
X-Linked Cobalamin Disorder Whole exome sequencing, Sanger sequencing HCFC1 zebrafish Z - LOF (MO)
Noonan syndrome Whole exome sequencing, Sanger sequencing RIT1 zebrafish Z - GOF (mutant mRNA)
3MC syndrome SNP array - homozygosity mapping COLEC11, MASP1 mouse, zebrafish, quail M - exp; Z - exp, LOF (MO), GOF; Q - GOF

Note, bold examples are reviewed in more detail in the text. Abbreviations: dn, dominant-negative; exp - expression analysis; GOF, gain-of-function; LOF, loss-of-function; M, mouse; MO, morpholino; NCE, non-coding enhancer; Q, quail; Z, zebrafish.