IFNAR1 gene mutation may contribute to developmental stuttering in the Chinese population.

ABSTRACT:

Background

Developmental stuttering is the most common form of stuttering without apparent neurogenic or psychogenic impairment. Recently, whole-exome sequencing (WES) has been suggested to be a promising approach to study Mendelian disorders.

Methods

Here, we describe an application of WES to identify a gene potentially responsible for persistent developmental stuttering (PDS) by sequencing DNA samples from 10 independent PDS families and 11 sporadic cases. Sanger sequencing was performed for verification with samples obtained from 73 additional patients with sporadic cases.

Results

We first searched for cosegregating variants/candidate genes in a Chinese family (Family 0) by sequencing DNA obtained from 3 affected members and 3 controls. Next, we sequenced DNA sampl

SUBMITTER: Sun Y 

PROVIDER: S-EPMC8600687 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature