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A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.

Publication ,  Journal Article
Kiely, BT; Koch, RL; Flores, L; Burner, D; Kaplan, S; Kishnani, PS
Published in: Front Genet
2022

Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent to which this subtype-based classification system accurately captures the landscape of phenotypic variation among GSD IV patients has not been systematically assessed. Methods: This study synthesized clinical data from all eligible cases of GSD IV in the published literature to evaluate whether this disorder is better conceptualized as discrete subtypes or a clinical continuum. A novel phenotypic scoring approach was applied to characterize the extent of hepatic, neuromuscular, and cardiac involvement in each eligible patient. Results: 146 patients met all inclusion criteria. The majority (61%) of those with sufficient data to be scored exhibited phenotypes that were not fully consistent with any of the established subtypes. These included patients who exhibited combined hepatic-neuromuscular involvement; patients whose phenotypes were intermediate between the established hepatic or neuromuscular subtypes; and patients who presented with predominantly cardiac disease. Conclusion: The application of this novel phenotypic scoring approach showed that-in contrast to the traditional subtype-based view-GSD IV may be better conceptualized as a multidimensional clinical continuum, whereby hepatic, neuromuscular, and cardiac involvement occur to varying degrees in different patients.

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Published In

Front Genet

DOI

ISSN

1664-8021

Publication Date

2022

Volume

13

Start / End Page

992406

Location

Switzerland

Related Subject Headings

  • 3105 Genetics
  • 1801 Law
  • 1103 Clinical Sciences
  • 0604 Genetics
 

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ICMJE
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Kiely, B. T., Koch, R. L., Flores, L., Burner, D., Kaplan, S., & Kishnani, P. S. (2022). A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum. Front Genet, 13, 992406. https://doi.org/10.3389/fgene.2022.992406
Kiely, Bridget T., Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, and Priya S. Kishnani. “A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.Front Genet 13 (2022): 992406. https://doi.org/10.3389/fgene.2022.992406.
Kiely BT, Koch RL, Flores L, Burner D, Kaplan S, Kishnani PS. A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum. Front Genet. 2022;13:992406.
Kiely, Bridget T., et al. “A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.Front Genet, vol. 13, 2022, p. 992406. Pubmed, doi:10.3389/fgene.2022.992406.
Kiely BT, Koch RL, Flores L, Burner D, Kaplan S, Kishnani PS. A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum. Front Genet. 2022;13:992406.

Published In

Front Genet

DOI

ISSN

1664-8021

Publication Date

2022

Volume

13

Start / End Page

992406

Location

Switzerland

Related Subject Headings

  • 3105 Genetics
  • 1801 Law
  • 1103 Clinical Sciences
  • 0604 Genetics