SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.

ABSTRACT:

Background

Congenital hydrocephalus (CH) is a highly morbid disease that features enlarged brain ventricles and impaired cerebrospinal fluid homeostasis. Although early linkage or targeted sequencing studies in large multigenerational families have localized several genes for CH, the etiology of most CH cases remains unclear. Recent advances in whole exome sequencing (WES) have identified five new bona fide CH genes, implicating impaired regulation of neural stem cell fate in CH pathogenesis. Nonetheless, in the majority of CH cases, the pathological etiology remains unknown, suggesting more genes await discovery.

Methods

WES of family members of a sporadic and familial form of severe L1CAM mutation-negative CH associated with aqueductal stenosis was performed. Rare genetic

SUBMITTER: Jin SC 

PROVIDER: S-EPMC6732308 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature