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Molecular testing in holoprosencephaly.

Paul Kruszka1, Ariel F Martinez1, Maximilian Muenke1

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|May 18, 2018
PubMed
Summary
This summary is machine-generated.

Holoprosencephaly (HPE) diagnosis is evolving with new genetic discoveries and advanced next-generation sequencing. This review updates recommendations for molecular testing in HPE, aiding prognosis and genetic counseling.

Keywords:
commercial laboratoriesholoprosencephalymolecular testingnext-generation sequencing

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Holoprosencephaly (HPE) is a congenital brain malformation due to forebrain. separation failure.
  • Genetic and environmental factors contribute to HPE etiology.
  • Traditional genetic testing includes karyotype, chromosomal microarray, and Sanger sequencing.

Purpose of the Study:

  • To systematically review molecular testing for HPE over the past 20 years.
  • To update recommendations for HPE genetic diagnosis based on technological advancements and new gene discoveries.
  • To provide guidance for clinicians and families regarding HPE genetic testing.

Main Methods:

  • Systematic literature review of HPE molecular testing studies (last 20 years).
  • Analysis of commercial diagnostic laboratory offerings for HPE.
  • Incorporation of recent gene discoveries, such as FGFR1, into diagnostic considerations.

Main Results:

  • Next-generation sequencing has significantly advanced HPE molecular diagnostics.
  • New genes, including FGFR1, are now associated with HPE.
  • Updated recommendations reflect current technology and genetic findings.

Conclusions:

  • Genetic diagnosis of HPE is crucial for patient prognosis, treatment, and family counseling.
  • Current molecular testing strategies should incorporate advanced sequencing technologies.
  • This updated guidance supports accurate HPE diagnosis and management.