Open Access

Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis

  • Authors:
    • Yijing Zhou
    • Dongwei Guo
    • Qianzhong Cao
    • Xinyu Zhang
    • Guangming Jin
    • Danying Zheng
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  • Published online on: February 10, 2021     https://doi.org/10.3892/mmr.2021.11914
  • Article Number: 275
  • Copyright: © Zhou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Isolated ectopia lentis (IEL) can lead to blindness as result of severe complications, such as retinal detachment and secondary glaucoma. Pathogenic variants in the fibrillin 1 (FBN1) gene are a common cause of IEL. The aim of the present study was to investigate the frequency of pathogenic FBN1 variants in twelve probands with IEL and to evaluate their associated phenotypes. Systemic clinical examination of the twelve probands indicated that all had bilateral EL with a median age at diagnosis of three years. High myopia was the most common feature among the probands (83.3%; 10/12 cases). No extraocular symptoms (either cardiovascular or skeletal) were observed among these patients. Genomic DNA was extracted from peripheral blood leukocytes from all patients for targeted exome sequencing. Seven heterozygous missense variants in FBN1 were identified by bioinformatics analysis and further verified using Sanger sequencing. The seven variants were all classified as pathogenic after segregation analysis on available family members according to the American College of Medical Genetics and Genomics standards and guidelines. Of the seven variants, three were novel, namely c.2179T>C, c.2496T>G and c.3346G>C. The remaining four, namely c.184C>T, c.367T>C, c.1879C>T and c.4096G>A have been reported in previous studies. The seven pathogenic variants were identified in 8/12 (66.7%) probands with IEL. These results expand the variant spectrum of the FBN1 gene as well as the understanding of the molecular pathogenesis of IEL.
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April-2021
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Spandidos Publications style
Zhou Y, Guo D, Cao Q, Zhang X, Jin G and Zheng D: Genotype variant screening and phenotypic analysis of <em>FBN1</em> in Chinese patients with isolated ectopia lentis. Mol Med Rep 23: 275, 2021
APA
Zhou, Y., Guo, D., Cao, Q., Zhang, X., Jin, G., & Zheng, D. (2021). Genotype variant screening and phenotypic analysis of <em>FBN1</em> in Chinese patients with isolated ectopia lentis. Molecular Medicine Reports, 23, 275. https://doi.org/10.3892/mmr.2021.11914
MLA
Zhou, Y., Guo, D., Cao, Q., Zhang, X., Jin, G., Zheng, D."Genotype variant screening and phenotypic analysis of <em>FBN1</em> in Chinese patients with isolated ectopia lentis". Molecular Medicine Reports 23.4 (2021): 275.
Chicago
Zhou, Y., Guo, D., Cao, Q., Zhang, X., Jin, G., Zheng, D."Genotype variant screening and phenotypic analysis of <em>FBN1</em> in Chinese patients with isolated ectopia lentis". Molecular Medicine Reports 23, no. 4 (2021): 275. https://doi.org/10.3892/mmr.2021.11914