Fig. 3
Pedigree of cases 1 (A) and 2 (B). Electropherograms from the fetus (A) and the newborn (B) with suspected CdLS diagnosis show the C6167T change in exon 35 of NIPBL gene leading to substitution of the 2056 proline residue with leucine and the C7968G change in exon 44 predicting a protein truncated at the 2490 residue. The electropherograms with the normal sequence in the parents of both cases are also shown. (C) Schematic genomic structure of NIPBL gene with exons (vertical bars) and introns (connecting diagonal lines with the localization of both mutations). The evolutionary conservation of amino acid residue P2056 (framed in red) affected by the missense mutation (lower panel). The multiple alignments of the protein stretch where the affected amino acid residue is embedded attest to the high amino acid sequence homology from Homo sapiens back to Mus musculus, Danio rerio, Drosophila melanogaster, and Caenorhabditis elegans.
