Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China  

作　　者：Su-Zhen Tang Ya-Ning Liu Shao-Hua Hu Hao Chen Hui Zhao Xue-Mei Feng Xiao-Jing Pan Peng Chen 

机构地区：[1]Department of Human Anatomy,Histology and Embryology,School of Basic Medicine,Qingdao University,Qingdao 266071,Shandong Province,China [2]The 971 Hospital of the Chinese People’s Liberation Army Navy,Qingdao 266071,Shandong Province,China [3]Qingdao Eye Hospital,Shandong Eye Institute,Shandong First Medical University&Shandong Academy of Medical Sciences,Qingdao 266071,Shandong Province,China

出　　处：《International Journal of Ophthalmology(English edition)》2019年第11期1674-1679,共6页国际眼科杂志（英文版）

基　　金：Supported by Natural Science Foundation of Shandong Province (No.ZR2018MH016);China Postdoctoral Science Foundation Funded Project (No.2017M612211);Medical Program of Shandong Province (No.2016WS0265);Qingdao Postdoctoral Application Research Project (No.40518060071);Qingdao Science and Technology Plan (No.16-6-2-14-nsh)

摘　　要：AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1(FBN1) gene responsible for congenital ectopia lentis(EL) in two Chinese families in northern China.METHODS: A detailed family history and clinical data from all participants were collected by clinical examination. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. Haplotyping was used to confirm the mutation sequence. Real-time PCR was used to determine the FBN1 messenger ribonucleic acid(m RNA) levels in patients with EL and in unaffected family members.RESULTS: The probands and other patients in the two families were affected with congenital isolated EL. A heterozygous FBN1 mutation in exon 21(c.2420_IVS20-8 del TCTGAAACAins CGAAAG) was identified in FAMILY-1. A heterozygous FBN1 mutation in exon 14(c.1633 C>T, p.R545 C) was identified in FAMILY-2. Each mutation cosegregated with the affected individuals in the family and did not exist in unaffected family members and 200 unrelated normal controls.CONCLUSION: The insertion-deletion mutation(c.2420 IVS20-8 del TCTGAAACA ins CGAAAG) in the FBN1 gene is first identified in isolated EL. The mutation(c.1633 C>T) in the FBN1 gene was a known mutation in EL patient. The variable phenotypes among the patients expand the phenotypic spectrum of EL in a different ethnic background.AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1(FBN1) gene responsible for congenital ectopia lentis(EL) in two Chinese families in northern China.METHODS: A detailed family history and clinical data from all participants were collected by clinical examination. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. Haplotyping was used to confirm the mutation sequence. Real-time PCR was used to determine the FBN1 messenger ribonucleic acid(m RNA) levels in patients with EL and in unaffected family members.RESULTS: The probands and other patients in the two families were affected with congenital isolated EL. A heterozygous FBN1 mutation in exon 21(c.2420_IVS20-8 del TCTGAAACAins CGAAAG) was identified in FAMILY-1. A heterozygous FBN1 mutation in exon 14(c.1633 C>T, p.R545 C) was identified in FAMILY-2. Each mutation cosegregated with the affected individuals in the family and did not exist in unaffected family members and 200 unrelated normal controls.CONCLUSION: The insertion-deletion mutation(c.2420 IVS20-8 del TCTGAAACA ins CGAAAG) in the FBN1 gene is first identified in isolated EL. The mutation(c.1633 C>T) in the FBN1 gene was a known mutation in EL patient. The variable phenotypes among the patients expand the phenotypic spectrum of EL in a different ethnic background.

关 键 词：CONGENITAL ECTOPIA lentis autosomal DOMINANT targeted next-generation sequencing FBN1 fibrillin-1 

分 类 号：R73[医药卫生—肿瘤]