Skip to main content
. 2022 Aug 24;83:104234. doi: 10.1016/j.ebiom.2022.104234

Figure 1.

Figure 1

Characterisation of FGF12 CNVs. a. Schematic drawings of the different FGF12 WTs as well as the different missense variants and CNVs. Green: UTR sites, blue: translated exons, orange: duplicated translated exons, red dots: missense variants. b. Characterisation of duplication 1 using RT-PCR from cDNA extracted from venous blood of the two patients described in Willemsen et al., 2020. Primer For 7 and Rev 3 were used for the amplification of the CNV, and the sequencing result of this PCR product showed a duplication encompassing Exon 3 to Exon 5. c. Characterisation of duplication 2 using RT-PCR from RNA extracted from Fibroblasts of the patient described in Willemsen et al., 2020. Primer For 7 and Rev 8 were used for the amplification of the CNV, and the sequencing result of this PCR product showed a duplication encompassing the whole gene of FGF12 (Exon 2 to Exon 6).