Open Access

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa

  • Authors:
    • Sanmei Liu
    • Lan Xie
    • Jun Yue
    • Tao Ma
    • Chunyan Peng
    • Biyuan Qiu
    • Zhenglin Yang
    • Jiyun Yang
  • View Affiliations

  • Published online on: April 8, 2016     https://doi.org/10.3892/ijmm.2016.2551
  • Pages: 1528-1534
  • Copyright: © Liu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited retinal diseases caused by the loss of photoreceptors. The present study aimed to identify the gene mutations responsible for RP in two patients diagnosed with sporadic RP using next-generation sequencing technology. For this purpose, two patients with sporadic RP and family members (namely parents and siblings) were recruited into this study and underwent a complete ophthalmological assessment. Whole-exome sequencing (WES) was performed on genomic DNA samples isolated from peripheral leukocytes which had been obtained from the two patients diagnosed with sporadic RP. WES data were annotated and filtered against four public databases and one in-house database. Subsequently, Sanger sequencing was performed in order to determine whether any of the candidate variants co-segregated with the disease phenotype in the families. A homozygous frameshift mutation, c.1445dupT (p.F482fs) in exon 12 of the PROM1 gene (MIM: 604365), satisfied a recessive inheritance model and showed complete co-segregation of the mutation with the disease phenotype in the families. The same mutation was not detected in the 200 ethnically-matched control samples by Sanger sequencing. The novel homozygous mutation c.1445dupT (p.F482fs) in the PROM1 gene was identified as a causative mutation for RP. Thus, the identification of this mutation has further expanded the existing spectrum of PROM1 mutations in patients with RP, thereby assisting in the molecular diagnosis of RP and enhancing our understanding of genotype-phenotype correlations in order to provide effective genetic counseling.
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June-2016
Volume 37 Issue 6

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Liu S, Xie L, Yue J, Ma T, Peng C, Qiu B, Yang Z and Yang J: Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. Int J Mol Med 37: 1528-1534, 2016
APA
Liu, S., Xie, L., Yue, J., Ma, T., Peng, C., Qiu, B. ... Yang, J. (2016). Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. International Journal of Molecular Medicine, 37, 1528-1534. https://doi.org/10.3892/ijmm.2016.2551
MLA
Liu, S., Xie, L., Yue, J., Ma, T., Peng, C., Qiu, B., Yang, Z., Yang, J."Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa". International Journal of Molecular Medicine 37.6 (2016): 1528-1534.
Chicago
Liu, S., Xie, L., Yue, J., Ma, T., Peng, C., Qiu, B., Yang, Z., Yang, J."Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa". International Journal of Molecular Medicine 37, no. 6 (2016): 1528-1534. https://doi.org/10.3892/ijmm.2016.2551