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Holoprosencephaly in the genomics era
Erich Roessler1, Ping Hu1, Maximilian Muenke1
1Medical Genetics Branch, National Human, Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Summary
Holoprosencephaly (HPE) is a common fetal condition caused by genetic and environmental factors affecting brain development. Research is simplifying our understanding of HPE pathogenesis using integrated genomics.
Area of Science:
- Developmental biology
- Human genetics
- Teratology
Background:
- Holoprosencephaly (HPE) is a congenital condition resulting from disrupted forebrain midline development.
- It leads to diverse brain and facial abnormalities, with a high in utero mortality rate (97%).
- The molecular mechanisms underlying HPE in early human embryos are not fully understood.
Purpose of the Study:
- To outline current knowledge on the primary causes of HPE.
- To present an integrated genomics approach for studying HPE pathogenesis.
- To elucidate the genetic interactions contributing to HPE phenotypes.
Main Methods:
- Review of current understanding of HPE pathogenesis.
- Application of a multifactorial integrated genomics approach.
- Analysis of genomic variation, including coding and noncoding regions.
Main Results:
- The understanding of HPE pathogenesis is becoming increasingly clear.
- Genomic technologies offer deep insights into disease-associated variations.
- Genetic interactions are predicted to explain diverse HPE phenotypes.
Conclusions:
- Integrated genomics is crucial for deciphering HPE.
- Understanding genetic interactions is key to explaining phenotypic divergence in HPE.
- Further research using genomic approaches will simplify HPE pathogenesis.
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