Genetics Sheds New Light on Congenital Hydrocephalus Biology

Dennis Lal¹, Aarno Palotie²

Affiliations

¹ Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, OH 44195, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
² Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Institute for Molecular Medicine Finland, University of Helsinki, 00290 Helsinki, Finland; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: aarno@broadinstitute.org.

PMID: 30048611
DOI: 10.1016/j.neuron.2018.07.008

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Genetics Sheds New Light on Congenital Hydrocephalus Biology

Dennis Lal et al. Neuron. 2018.

Free article

. 2018 Jul 25;99(2):246-247.

doi: 10.1016/j.neuron.2018.07.008.

Authors

Dennis Lal¹, Aarno Palotie²

Affiliations

¹ Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, OH 44195, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
² Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Institute for Molecular Medicine Finland, University of Helsinki, 00290 Helsinki, Finland; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: aarno@broadinstitute.org.

PMID: 30048611
DOI: 10.1016/j.neuron.2018.07.008

Abstract

A genetic informed approach sheds new light on the biology of congenital hydrocephalus (CH), on which previous knowledge of the genetic background is scanty. In this issue, Furey et al. (2018) discover that variants in four genes associated with neurogenesis are implicated in CH.

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De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.
Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT. Furey CG, et al. Neuron. 2018 Jul 25;99(2):302-314.e4. doi: 10.1016/j.neuron.2018.06.019. Epub 2018 Jul 5. Neuron. 2018. PMID: 29983323 Free PMC article.

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Genetics Sheds New Light on Congenital Hydrocephalus Biology

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Genetics Sheds New Light on Congenital Hydrocephalus Biology

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