Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus

Garrett Allington, Phan Q. Duy, Jian Ryou, Amrita Singh, Emre Kiziltug, Stephanie M. Robert, Adam J. Kundishora, Spencer King, Shozeb Haider, Kristopher T. Kahle, Sheng Chih Jin

Research output: Contribution to journalReview articlepeer-review

5 Scopus citations


Congenital hydrocephalus (CH), characterized by incomplete clearance of CSF and subsequent enlargement of brain ventricles, is the most common congenital brain disorder. The lack of curative strategies for CH reflects a poor understanding of the underlying pathogenesis. Herein, the authors present an overview of recent findings in the pathogenesis of CH from human genetic studies and discuss the implications of these findings for treatment of CH. Findings from these omics data have the potential to reclassify CH according to a molecular nomenclature that may increase precision for genetic counseling, outcome prognostication, and treatment stratification. Beyond the immediate patient benefits, genomic data may also inform future clinical trials and catalyze the development of nonsurgical, molecularly targeted therapies. Therefore, the authors advocate for further application of genomic sequencing in clinical practice by the neurosurgical community as a diagnostic adjunct in the evaluation and management of patients diagnosed with CH.

Original languageEnglish
Pages (from-to)168-177
Number of pages10
JournalJournal of Neurosurgery: Pediatrics
Issue number2
StatePublished - Feb 2022


  • Complex inheritance
  • Congenital hydrocephalus
  • Genomic medicine
  • Genomics
  • Neurodevelopmental disorders
  • Whole-exome sequencing


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