Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.

ABSTRACT:

Objectives

Obstructive sleep apnea (OSA) is a common disorder influenced by genetic and environmental factors. Mutations of AT-hook DNA-binding motif containing 1 (AHDC1) gene have been implicated which could cause rare syndromes presenting OSA. This study aims to investigate some rare mutations of AHDC1 in Chinese Han individuals with OSA.

Patients and methods

Three hundred and seventy-five patients with OSA and one hundred and nine control individuals underwent polysomnography. A targeted sequencing experiment was taken in 100 patients with moderate-to-severe OSA, and genotyping was taken in 157 moderate-to-severe OSA and 100 control individuals. The effect of mutations was validated by the luciferase reporter assay.

Results

One rare missense mutation

SUBMITTER: Yang S 

PROVIDER: S-EPMC6815587 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature