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Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea
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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815587/ https://www.ncbi.nlm.nih.gov/pubmed/31737670 http://dx.doi.org/10.1155/2019/5907361 |
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author | Yang, Song Li, Kun 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 Qin, Yan-Wen |
author_facet | Yang, Song Li, Kun 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 Qin, Yan-Wen |
author_sort | Yang, Song |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6815587 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-68155872019-11-17 Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea Yang, Song Li, Kun 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 Qin, Yan-Wen Biomed Res Int Research Article 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. Hindawi 2019-10-13 /pmc/articles/PMC6815587/ /pubmed/31737670 http://dx.doi.org/10.1155/2019/5907361 Text en Copyright © 2019 Song Yang et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Yang, Song Li, Kun 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 Qin, Yan-Wen Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea |
title | Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea |
title_full | Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea |
title_fullStr | Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea |
title_full_unstemmed | Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea |
title_short | Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea |
title_sort | rare mutations in ahdc1 in patients with obstructive sleep apnea |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815587/ https://www.ncbi.nlm.nih.gov/pubmed/31737670 http://dx.doi.org/10.1155/2019/5907361 |
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