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. 2021 Dec 21;9(1):2. doi: 10.3390/jcdd9010002

Figure 4.

Figure 4

De novo duplication of the ATAD3 gene cluster (OMIM #618815) identified in a female newborn with left ventricle hypertrophy and clinical suspicion of mitochondrial disease. (A) In a newborn female presenting with brain anomalies, left ventricular hypertrophy and corneal opacity, leading to the clinical suspicion of mitochondrial disease, we identified a previously reported de novo duplication in the ATAD3 gene cluster (chr1:1392270_1460317dup), which creates an ATAD3A-C fusion gene (B). The presence of the duplication has been confirmed by PCR (C) using the same primers reported by Gunning et al. [25] for case 4 (* F: chr1 (GRCh37):1459103-1459123 and * R: chr1 (GRCh37):1392608-1392630).