FBN3gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome

// Yun Wang 1, * , Abir Garraoui 2, 3, * , Liuzhi Zeng 4, * , Mingying Lai 1 , Fen He 1 , Huaizhou Wang 5 , Chongyi Jiang 2 , Yulan Chen 2 , Lanlan Dai 2 , Ning Fan 1 , Huanming Yang 2, 6 , Jianguo Zhang 2, 7 and Xuyang Liu 1 1 Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen University, Shenzhen, China 2 BGI-Shenzhen, Shenzhen, China 3 Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia 4 The First People's Hospital of Chengdu, Chengdu, China 5 Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Ophthalmology & Visual Sciences Key Laboratory, Capital Medical University, Beijing, China 6 James D. Watson Institute of Genome Sciences, Hangzhou, China 7 Shenzhen Key Laboratory of Neurogenomics, BGI-Shenzhen, Shenzhen, China * These authors have contributed equally to this work Correspondence to: Xuyang Liu, email: xliu1213@126.com Jiangguo Zhang, email: Jianguozhang@genomics.cn Keywords: Bardet-Biedl syndrome, retinitis pigmentosa, FBN3 , whole exome sequencing Received: March 27, 2017 Accepted: August 29, 2017 Published: September 30, 2017 ABSTRACT 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.