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

Figure 1

Overview of the phenotype and molecular findings of two patients with CdLS. (a) Phenotype of patient 1. (b) Phenotype of patient 2. (c) Localization of the mutations on NIPBL gene and their consequences upon transcript processing. Boxes mean exons and lines mean introns. Dark boxes represent the nontranslated region. The localization of each mutation and chromatograms on genomic DNA are shown above the gene. Agarose gel of the cDNA PCR products in each patient’ pictures and chromatograms are shown underneath the gene. Patient 1 yielded normal product of 634 bp and an aberrant fragment of 535 bp corresponding to exon 28 skipping. Patient 2 showed the normal product of 363 bp and an additional band of 208 bp corresponding to exon 37 skipping (MW: molecular weight, WT: wild type, P1: patient 1, and P2: patient 2).

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