De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

doi:10.1016/j.neuron.2018.06.019

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Article

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Neuron - 25 Jul 2018

Furey Charuta Gavankar, Choi Jungmin, Jin Sheng Chih, Zeng Xue, Timberlake Andrew T, Nelson-Williams Carol, Mansuri M Shahid, Lu Qiongshi, Duran Daniel, Panchagnula Shreyas, Allocco August, Karimy Jason K, Khanna Arjun, Gaillard Jonathan R, DeSpenza Tyrone, Antwi Prince, Loring Erin, Butler William E, Smith Edward R, Warf Benjamin C, Strahle Jennifer M, Limbrick David D, Storm Phillip B, Heuer Gregory, Jackson Eric M, Iskandar Bermans J, Johnston James M, Tikhonova Irina, Castaldi Christopher, López-Giráldez Francesc, Bjornson Robert D, Knight James R, Bilguvar Kaya, Mane Shrikant, Alper Seth L, Haider Shozeb, Guclu Bulent, Bayri Yasar, Sahin Yener, Apuzzo Michael L J, Duncan Charles C, DiLuna Michael L, Günel Murat, Lifton Richard P, Kahle Kristopher T

Abstract excerpt

Congenital hydrocephalus (CH), featuring markedly enlarged brain ventricles, is thought to arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical CSF shunting with substantial morbidity. CH pathogenesis is poorly understood. Exome sequencing of 125 CH trios and 52 additional probands identified three genes with significant burden of rare damaging de novo or transmitted...

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Identifiers

PMID: 29983323
DOI: 10.1016/j.neuron.2018.06.019
PMCID: PMC7839075

Genes

PTCH1
SHH
SMARCC1
TRIM71

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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