Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea
Joint Authors
Li, Kun
Qin, Yanwen
Yang, Song
Zhu, Miao-Miao
Yuan, Xian-Dao
Jiao, Xiao-Lu
Yang, Yun-Yun
Li, Juan
Li, Linyi
Zhang, Hui-Na
Du, Yun-Hui
Wei, Yong-Xiang
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-10-13
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Yang, Song& Li, Kun& Zhu, Miao-Miao& Yuan, Xian-Dao& Jiao, Xiao-Lu& Yang, Yun-Yun…[et al.]. 2019. Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea. BioMed Research International،Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1126312
Modern Language Association (MLA)
Yang, Song…[et al.]. Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea. BioMed Research International No. 2019 (2019), pp.1-7.
https://search.emarefa.net/detail/BIM-1126312
American Medical Association (AMA)
Yang, Song& Li, Kun& Zhu, Miao-Miao& Yuan, Xian-Dao& Jiao, Xiao-Lu& Yang, Yun-Yun…[et al.]. Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea. BioMed Research International. 2019. Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1126312
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1126312