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

Peng Chen. Department of Human Anatomy, Histology and Embryology, School of Basic Medicine, Qingdao University, 308 Ningxia Road, Qingdao 266071, Shandong Province, China. chenpeng599205@126.com; Xiao-Jing Pan. Qingdao Eye Hospital, Shandong Eye Institute, Shandong First Medical University & Shandong Academy of Medical Sciences, 5 Yan’er dao Road, Qingdao 266071, Shandong Province, China. panxjcrystal@163.com

Affiliation:

Clc Number:

Fund Project:

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).

  • Article
  • |
  • Figures
  • |
  • Metrics
  • |
  • Reference
  • |
  • Related
  • |
  • Cited by
  • |
  • Materials
  • |
  • Comments
    Abstract:

    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 (mRNA) 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 delTCTGAAACAinsCGAAAG) was identified in FAMILY-1. A heterozygous FBN1 mutation in exon 14 (c.1633C>T, p.R545C) was identified in FAMILY-2. Each mutation co-segregated 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 IVS20-8delTCTGAAACA insCGAAAG) in the FBN1 gene is first identified in isolated EL. The mutation (c.1633C>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.

    Reference
    Related
    Cited by
Get Citation

Su-Zhen Tang, Ya-Ning Liu, Shao-Hua Hu, et al. Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China. Int J Ophthalmol, 2019,12(11):1674-1679

Copy
Share
Article Metrics
  • Abstract:
  • PDF:
  • HTML:
  • Cited by:
Publication History
  • Received:December 06,2018
  • Revised:June 12,2019
  • Adopted:
  • Online: October 08,2019
  • Published: