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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 (AHDC1: p.G1484D) and two mutations (c.-88C>T; c.-781C>G) in 5'-untranslated region (UTR) of AHDC1 were identified. The rare mutation (c.-781C>G) in 5'-UTR that was identified in several patients presenting more severe clinical manifestations affects expression of AHDC1. Conclusions. Our results revealed three rare mutations of AHDC1 in patients with OSA in Chinese Hanindividuals.

journal_name

Biomed Res Int

journal_title

BioMed research international

authors

Yang S,Li K,Zhu MM,Yuan XD,Jiao XL,Yang YY,Li J,Li L,Zhang HN,Du YH,Wei YX,Qin YW

doi

10.1155/2019/5907361

subject

Has Abstract

pub_date

2019-10-13 00:00:00

pages

5907361

eissn

2314-6133

issn

2314-6141

journal_volume

2019

pub_type

杂志文章

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