Figure 2
From: Syndromic obesity: clinical implications of a correct diagnosis
Two novel heterozygous frameshift mutations were detected in the proband. Panels show the chromatograms of the forward sequences relative to the regions on exon 8 in which the deletions (indicated by the arrows) are located, at positions 3251 and 6731 from the ATG of the coding sequence (c.) of ALMS1 mRNA (NM_015120.4), respectively. The position of the frameshift (fs) and of the predicted premature termination codon (*) at the protein sequence level is indicated (p.). Nomenclature of mutations is according to den Dunnen JT and Antonarakis E[13].