Variants identified in PTK7 associated with neural tube defects.

ABSTRACT:

Background

Variants in planar cell polarity (PCP) pathway genes have been repeatedly implicated in the pathogenesis of NTDs in both mouse models and in human cohorts. Mouse models indicate that the homogenous disruption of the Ptk7 gene, a PCP regulator, results in craniorachischisis; while embryos that are doubly heterozygous for Ptk7^XST87 and Vangl2^Lp mutations present with spina bifida.

Methods

In this study, we initially sequenced exons of the human PTK7 gene in 192 spina bifida patients and 190 controls from a California population. A phase II validation study was performed in 343 Chinese NTD cohort. Functional assays including immunoblotting and immunoprecipitation were used to study identified variants effect on PTK7 function.

Results

We i

SUBMITTER: Lei Y 

PROVIDER: S-EPMC6465732 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature