We present a patient with dystrophinopathy and additional complex genetic variants to highlight potential challenges in directing the care and discussion of treatment options. A 12-month-old male child presented to neurology with global delays, including gross motor and speech delay, macrocephaly with frontal bossing, short stature, and hypertelorism. He underwent extensive genetic workup, which identified 4 genetic diagnoses including an intragenic DMD inversion flanked by single exon deletions, a telomere biology disorder, and 2 neurodevelopmental conditions. Our case highlights the need for heightened awareness of atypical dystrophinopathy phenotypes and utility of emerging genetic testing technologies. In an era of novel therapeutics, including genetically-based treatments, the constellation of genetic variants poses potentially interesting and unique challenges for treatment.
Keywords: dystrophinopathy; gene therapy; inversion; optical genome mapping; telomere biology disorder.