Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

Figure 2

Functional analyses of the intronic mutations c.5329-15A>G and c.6344del(-13)_(-8). (a) Minigene constructs were generated by site-directed mutagenesis. Deletion of c.6344del(-13)_(-8) causes an exon skipping that was also found by a transversion of the five deleted purines into pyrimidines (PUR). (b) Quantitative real-time PCR analysis of total NIPBL mRNA from leukocytes of patients with CdLS and controls. NIPBL transcript levels were normalized by GAPDH expression. The values presented are the medians of triplicate determinations ± SD. The mean ratio of total NIPBL mRNA in controls was assigned as 100% (CT: controls, P1: patient 1, P2: patient 2, and : versus control).

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