- Title
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Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
- Authors
- Kruszka, P., Uwineza, A., Mutesa, L., Martinez, A.F., Abe, Y., Zackai, E.H., Ganetzky, R., Chung, B., Stevenson, R.E., Adelstein, R.S., Ma, X., Mullikin, J.C., Hong, S.K., Muenke, M.
- Source
- Full text @ Mol Genet Genomic Med
Box shows location of missense mutation in IQCK; (A) control morpholino phenotype at 48 h in zebrafish is normal; (B) iqck morpholino at 48 h shows cardiac edema (red arrow) and ventral fin hypoplasia (yellow arrow); (C) coinjection of iqck morpholino and IQCK (hIQCK) mRNA shows rescued phenotype; (D) control human IQCK injection results in normal phenotype; (E) coinjection of iqck morpholino and human Q223E human IQCK mRNA resulting in worsening of phenotype than iqck morpholino alone shown in Figure 6B; (F) human Q223E IQCK mRNA injection shows normal phenotype; (G) coinjection of iqck morpholino and human Q223H human IQCK mRNA resulting failure to rescue phenotype; (H) human Q223H IQCK mRNA injection shows normal phenotype; (I) coinjection of iqck morpholino and human Q222S human IQCK mRNA resulting in a rescued phenotype; (J) human Q222S IQCK mRNA injection shows normal phenotype. PHENOTYPE:
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