Holoprosencephaly in the genomics era

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Erich RoesslerMaximilian Muenke

Abstract

Holoprosencephaly (HPE) is the direct consequence of specific genetic and/or environmental insults interrupting the midline specification of the nascent forebrain. Such disturbances can lead to a broad range of phenotypic consequences for the brain and face in humans. This malformation sequence is remarkably common in utero (1 in 250 human fetuses), but 97% typically do not survive to birth. The precise molecular pathogenesis of HPE in these early human embryos remains largely unknown. Here, we outline our current understanding of the principal driving factors leading to HPE pathologies and elaborate our multifactorial integrated genomics approach. Overall, our understanding of the pathogenesis continues to become simpler, rather than more complicated. Genomic technologies now provide unprecedented insight into disease-associated variation, including the overall extent of genetic interactions (coding and noncoding) predicted to explain divergent phenotypes.

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Citations

May 18, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Paul KruszkaMaximilian Muenke
May 18, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Paul Kruszka, Maximilian Muenke
Apr 18, 2019·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Yevgenya Grinblat, Robert J Lipinski
Jul 25, 2019·Brain : a Journal of Neurology·Paul KruszkaMaximilian Muenke
Dec 18, 2019·American Journal of Medical Genetics. Part a·Tara DalyOlaf Bodamer
Aug 9, 2020·Alcoholism, Clinical and Experimental Research·Joshua L EversonJohann K Eberhart
Jul 19, 2020·Development·Tyler G Beames, Robert J Lipinski
Sep 6, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Tommy HuMaximilian Muenke
Nov 7, 2019·Proceedings of the National Academy of Sciences of the United States of America·Tomoko SagaiToshihiko Shiroishi
Jun 10, 2020·Environmental Health : a Global Access Science Source·Yonit A AddissieMaximilian Muenke
Oct 29, 2020·Birth Defects Research·Yonit A AddissiePaul Kruszka
May 6, 2021·American Journal of Medical Genetics. Part a·A Micheil Innes, Danielle C Lynch
Sep 11, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ping HuMaximilian Muenke

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