Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome

A graph showing: A) schematic representation of human CDKN1C. The position of the variant reported in this study is indicated with an arrow above the protein. B and C; sequence chromatograms of the mutated region in CDKN1C in the patient B) and his mother C). The patient harbors a heterozygous mutation (c.703C>T) in CDKN1C that results in (p.Gln235X), while the mother has only the WT version of this paternally imprinted gene.