FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome
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Yun Wang1,*, Abir Garraoui2,3,*, Liuzhi Zeng4,*, Mingying Lai1, Fen He1, Huaizhou Wang5, Chongyi Jiang2, Yulan Chen2, Lanlan Dai2, Ning Fan1, Huanming Yang2,6, Jianguo Zhang2,7 and Xuyang Liu1
1Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen University, Shenzhen, China
2BGI-Shenzhen, Shenzhen, China
3Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia
4The First People's Hospital of Chengdu, Chengdu, China
5Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Ophthalmology & Visual Sciences Key Laboratory, Capital Medical University, Beijing, China
6James D. Watson Institute of Genome Sciences, Hangzhou, China
7Shenzhen Key Laboratory of Neurogenomics, BGI-Shenzhen, Shenzhen, China
*These authors have contributed equally to this work
Xuyang Liu, email: [email protected]
Jiangguo Zhang, email: [email protected]
Keywords: Bardet-Biedl syndrome, retinitis pigmentosa, FBN3, whole exome sequencing
Received: March 27, 2017 Accepted: August 29, 2017 Published: September 30, 2017
Purpose: This study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS).
Methods: All the family members underwent medical history evaluation, ophthalmologic and physical examinations. Whole exome sequencing was performed on two affected individuals and their parents. All variants were verified in all family members by PCR amplification and Sanger sequencing.
Results: Patients in this family were diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive. Compound heterozygous mutations of the FBN3 gene (c.3616G>A and c.6037C>T) were identified by whole exome sequencing. Results from Sanger sequencing showed co-segregation of these compound heterozygous mutations in the FBN3 gene with BBS disease in the family.
Conclusion: Novel compound heterozygous mutations c.3616G>A and c.6037C>T of FBN3 were identified in all affected individuals but not in the unaffected family members. This is the first time to the best of our knowledge, that the FBN3 gene is involved in the pathogenesis of BBS. This study will expand our understanding about the gene spectrum related to this genetically heterogeneous disorder.
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