Truncating de novo mutations in the Kruppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.

ABSTRACT:

Background

Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors. Only few ZNF genes are currently linked to human disorders and identification of ZNF gene-associated human diseases may help understand their function. Here we provide genetic, statistical, and clinical evidence to support association of ZNF148 with a new intellectual disability (ID) syndrome disorder.

Methods

Routine diagnostic exome sequencing data were obtained from 2172 patients with ID and/or multiple congenital anomalies.

Results

I

SUBMITTER: Stevens SJ 

PROVIDER: S-EPMC5155377 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature