case_images: PMC11744616_01
case_images: Portion of the DNA sequences of the BCL11A gene (reverse sequence) identified by Sanger sequencing. Both the father (a) and the mother (c) showed normal sequences, and only the patient (b) showed a heterozygous pathogenic variant: c.1078dupC within the fourth exon of BCL11A. The purple arrow indicates the position of the duplicated nucleotide cytosine (C).
case_images: 10.1177_2050313X251314069-fig1.jpg
case_images: PMC11744616_01_10.1177_2050313X251314069-fig1.jpg
case_images: fig1-2050313X251314069
case_images: Sequencing Project (http://evs.gs.washington.edu/EVS/), ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/), OMIM (https://www.omim.org/), and HGMD (https://www.hgmd.cf.ac.uk/ac/index.php) databases, a de novo c.1078dupC (p.Leu360Profs*212) heterozygous pathogenic variant located in the fourth exon of the BCL11A gene appeared only in the patient and was evaluated further. Sanger sequencing verified this frameshift mutation (Figure 1).