[en] Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical coherence tomography (OCT), and standard electroretinography, were conducted. Molecular analysis and high-throughput DNA sequence analysis were performed. The proband was diagnosed with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T>C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed and was completely co-segregated with the disease in this family by Sanger sequencing. Thus, we report a novel, homozygous splicing site variant c.208+2T>C in the BBS5 gene for the first time in the Iranian family.
Disciplines :
Ophtalmologie
Auteur, co-auteur :
Imani, Saber; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China
Cheng, Jingliang; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China
Fu, Jiewen; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China ; Institute of Medical Technology, Xiangtan Medicine and Health Vocational College, Xiangtan, Hunan, China
Mobasher-Jannat, Abdolkarim; Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, Iran
Wei, Chunli; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China ; State Key Laboratory of Quality Research in Chinese Medicine, Macau Institute for Applied Research in Medicine and Health, Macau University of Science and Technology, Macau (SAR), China
Mohazzab-Torabi, Saman; Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran
Jadidi, Khosrow; Department of Ophthalmology, Bina Eye Hospital Research Center, Tehran, Iran
Khosravi, Mohammad Hossein ; Université de Liège - ULiège ; Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, Iran
Shasaltaneh, Marzieh Dehghan; Department of Biology, Faculty of Science, University of Zanjan, Zanjan, Iran
Yang, Lisha; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China
Khan, Md Asaduzzaman; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China
Fu, Junjiang ; Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China fujunjiang@hotmail.com ; State Key Laboratory of Quality Research in Chinese Medicine, Macau Institute for Applied Research in Medicine and Health, Macau University of Science and Technology, Macau (SAR), China
Langue du document :
Anglais
Titre :
Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing.
Date de publication/diffusion :
2019
Titre du périodique :
Bioscience Reports
ISSN :
0144-8463
eISSN :
1573-4935
Maison d'édition :
Portland Press Ltd, England
Volume/Tome :
39
Fascicule/Saison :
3
Peer reviewed :
Peer reviewed vérifié par ORBi
Subventionnement (détails) :
We thank the patients and the families for their collaboration during the project. We also thank Dr. Rui Chen in Baylor College of Medicine, Shangyi Fu from the University of Houston/Baylor College of Medicine for reading and revising the manuscript. This work was supported by the National Natural Science Foundation of China [grant numbers 81672887, 31701087, 30371493]; the Research Foundation of the Education Department of Sichuan Province [grant numbers 17ZA0427, 17ZB0467]; and the Joint Research Foundation of Luzhou City and Southwest Medical University [grant number 2018LZXNYD-YL01].This work was supported by the National Natural Science Foundation of China [grant numbers 81672887, 31701087, 30371493]; the Research Foundation of the Education Department of Sichuan Province [grant numbers 17ZA0427, 17ZB0467]; and the Joint Research Foundation of Luzhou City and Southwest Medical University [grant number 2018LZXNYD-YL01].
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