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Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a

Allison G Wheeler1, Kaylee Dollerschell1, Melissa A Gibbons1

  • 1Department of Pediatrics, University of Colorado Anschutz School of Medicine/Children's Hospital Colorado, Aurora, CO 80045, USA.

Journal of Child Neurology
|October 15, 2025
PubMed

Insights

This case study details a child with a rare dystrophinopathy and multiple genetic diagnoses. Complex genetic profiles present challenges for personalized treatment strategies in rare diseases.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Dystrophinopathy presents with a spectrum of clinical manifestations.
  • Genetic complexity can complicate diagnosis and treatment planning.
  • Emerging genetic testing technologies aid in identifying complex variants.

Purpose of the Study:

  • To highlight challenges in managing patients with complex genetic profiles.
  • To emphasize the need for awareness of atypical dystrophinopathy phenotypes.
  • To discuss the implications of multiple genetic diagnoses for treatment options.

Main Methods:

  • Case report of a 12-month-old male with global developmental delays.
  • Comprehensive genetic workup including analysis of the dystrophin gene (DMD).
  • Identification of four distinct genetic diagnoses.

Main Results:

  • The patient exhibited an intragenic DMD inversion with single exon deletions.
  • Additional diagnoses included a telomere biology disorder and two neurodevelopmental conditions.
  • The combination of variants presented unique challenges for care and treatment.

Conclusions:

  • Atypical dystrophinopathy phenotypes require increased clinical awareness.
  • Advanced genetic testing is crucial for diagnosing complex genetic conditions.
  • Multiple genetic diagnoses necessitate individualized therapeutic approaches.

Keywords:
dystrophinopathygene therapyinversionoptical genome mappingtelomere biology disorder

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