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Related Concept Videos

Polygenic Traits01:18

Polygenic Traits

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition.

Andrea Gazzin1,2, Giuseppe Reynolds2,3, Damiano Allegro4

  • 1Clinical Pediatrics Genetics Unit, Regina Margherita Children's Hospital, Turin, Italy.

Clinical Genetics
|February 2, 2025
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Summary

Total body dual-energy X-ray absorptiometry (TB-DXA) offers a standardized method for assessing lateralized overgrowth (LO). This safe and reproducible tool accurately quantifies overgrowth and tissue composition differences, aiding diagnosis and management.

Keywords:
Beckwith‐Wiedemann spectrumPIK3CA‐related overgrowth spectrumPROSdual‐energy X‐ray absorptiometryisolated lateralized overgrowthlateralized overgrowth

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Area of Science:

  • Medical Imaging
  • Pediatric Endocrinology
  • Genetics

Background:

  • Lateralized overgrowth (LO) is a condition of asymmetrical body growth.
  • LO can be isolated (ILO) or part of syndromes like Beckwith-Wiedemann Spectrum (BWSp) and PIK3CA-related overgrowth spectrum (PROS).
  • Current LO diagnosis relies on subjective clinical evaluation without standardization.

Purpose of the Study:

  • To evaluate total body dual-energy X-ray absorptiometry (TB-DXA) as a tool for standardizing LO assessment.
  • To compare TB-DXA findings with clinical evaluations in patients with LO.
  • To analyze tissue composition differences in LO using TB-DXA.

Main Methods:

  • 46 patients with LO underwent clinical evaluation and TB-DXA.
  • TB-DXA data analyzed included total mass, tissue components (adipose, muscle, bone), and discrepancy ratios.
  • Affected and contralateral body regions were compared for mass and tissue composition differences.

Main Results:

  • TB-DXA aligned with clinical evaluation in 91% of cases, detecting overgrowth missed clinically.
  • Significant differences in tissue composition were found between affected and unaffected regions.
  • PROS showed predominantly adipose tissue overgrowth, while BWSp/ILO showed osteo-muscular overgrowth.

Conclusions:

  • TB-DXA provides an accurate, safe, and reproducible objective method for quantifying LO.
  • TB-DXA aids in differentiating overgrowth patterns across various LO conditions.
  • This imaging tool offers valuable clinical guidance for LO diagnosis and management.