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Holoprosencephaly: A clinical genomics perspective.

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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Summary

Exome sequencing in holoprosencephaly (HPE) cases revealed a 22% diagnostic yield. Many positive results identified genes not traditionally linked to HPE, suggesting it may be part of a broader spectrum of genetic conditions.

Keywords:
HPEexomeholoprosencephaly

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Area of Science:

  • Clinical Genetics
  • Molecular Diagnostics
  • Genomic Medicine

Background:

  • Rapid advancements in genetic technologies are transforming clinical practice.
  • Holoprosencephaly (HPE) is a complex congenital disorder with significant genetic heterogeneity.
  • Clinical molecular laboratories are increasingly adopting advanced sequencing techniques.

Purpose of the Study:

  • To evaluate the utility of exome testing in a cohort of patients with holoprosencephaly (HPE).
  • To assess the diagnostic yield and spectrum of genetic findings in HPE cases.
  • To understand the genetic basis of HPE in the context of broader genetic conditions.

Main Methods:

  • Retrospective analysis of clinical data from patients with HPE.
  • Whole exome sequencing (WES) was performed on patient samples.
  • Bioinformatic analysis and variant interpretation were conducted.

Main Results:

  • Exome testing achieved a 22% positive diagnostic rate in the studied HPE cohort.
  • A significant proportion (29%) of positive findings involved genes not previously associated with classic HPE.
  • These results suggest HPE may represent a severe manifestation within a wider spectrum of genetic disorders.

Conclusions:

  • Exome sequencing is a valuable tool for diagnosing HPE, even in challenging cases.
  • The genetic landscape of HPE is broader than previously recognized, encompassing genes involved in other developmental conditions.
  • Further research is needed to delineate the full spectrum of genetic etiologies underlying HPE.