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Genetics of Hydrocephalus: Causal and Contributory Factors

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Cerebrospinal Fluid Disorders

Abstract

Hydrocephalus, as a multifactorial condition, can be caused or influenced by genetic factors at many levels. The best known genetic causes are mutations in genes such as L1CAM that cause hydrocephalus primarily through CSF obstruction. In these conditions, hydrocephalus is often severe, prenatal in onset, and may be the predominant clinical feature. Hydrocephalus may also be a feature of many genetic syndromes, such as the congenital muscular dystrophies, the RASopathies, and craniosynostosis syndromes. These conditions are usually identified on the basis of clinical features other than hydrocephalus, although those features may be overshadowed when ventricular dilatation is severe. Finally, acquired or multifactorial forms of hydrocephalus could conceivably be influenced by susceptibility genes. In this chapter, we focus first on genetic causes of severe, early-onset forms of hydrocephalus. We next address syndromes in which hydrocephalus may be an accompanying – but not the primary – clinical feature. Finally, we touch upon the notion of genetic variants that are not pathogenic in themselves, but could increase the likelihood of developing hydrocephalus in the presence of other risk factors.

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Authors and Affiliations

  1. Department of Neurology, University of Washington and Seattle Children’s Hospital, Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, USA

    Hannah Tully

  2. Pathology Laboratory, Rouen University Hospital and Inserm Unit 1245, Team Genetics and Pathophysiology of Neurodevelopmental Disorders, IRIB, Rouen, France

    Annie Laquerriere

  3. Department of Pediatrics, University of Washington and Seattle Children’s Hospital, Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, USA

    Dan Doherty

  4. Department of Genetics, University of Washington, Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, USA

    William Dobyns

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  1. Hannah Tully
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  2. Annie Laquerriere
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  3. Dan Doherty
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  4. William Dobyns
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Correspondence to Hannah Tully .

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Editors and Affiliations

  1. Department of Neurological Surgery, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis, MO, USA

    David D. Limbrick Jr.

  2. Nationwide Children’s Hospital, Department of Neurosurgery, The Ohio State University College of Medicine, Columbus, OH, USA

    Jeffrey R. Leonard

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Tully, H., Laquerriere, A., Doherty, D., Dobyns, W. (2019). Genetics of Hydrocephalus: Causal and Contributory Factors. In: Limbrick Jr., D., Leonard, J. (eds) Cerebrospinal Fluid Disorders . Springer, Cham. https://doi.org/10.1007/978-3-319-97928-1_6

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