Fig. 2
From: Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome
Segregation analysis of identified variants and minigene assay performed for variant TBC1D32 (NM_152730): c.769 + 5G > A. (A) Segregation analysis performed in the parents confirming their co-segregation with the disease. (B) Amplification of the target region in the cDNA both wild-type and mutant as a result of the functional assay by minigene of variant c.769 + 5G > A. SD6 and SA2 represent the constitutive exons of the plasmid pSPL3. Wild-type and mutant contexts are depicted by bands 1 and 2, respectively, where band 2 depicts the exon 6 skipping; (C) cDNA sequence by Sanger of bands 1 and 2 observed in the gel of section B