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

• 作者: Hao Chen Hui Zhao Peng Chen Shao-Hua Hu Su-Zhen Tang Xiao-Jing Pan Xue-Mei Feng Ya-Ning Liu
• 来源期刊: 国际眼科杂志:英文版
• 学科: 医学
• 关键词: CONGENITAL ECTOPIA lentis autosomal DOMINANT targeted next-generation sequencing FBN1 fibrillin-1
• 年，卷（期）: 2019,（11）
• 页码范围: 1674-1679
• 页数: 6页
• 分类号: R73

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.