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Ophthalmic Genet. 2017 Jan-Feb;38(1):70-73. doi: 10.3109/13816810.2015.1136336. Epub 2016 Mar 30.

Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa.

Author information

1
a Department of Ophthalmology and Visual Sciences , Kyoto University Graduate School of Medicine , Kyoto , Japan.
2
b Center for Genomic Medicine, Kyoto University Graduate School of Medicine , Kyoto , Japan.

Abstract

PURPOSE:

In this study, we aimed to detect mutations in the SLC7A14 cationic transporter gene, which has recently been reported as a causative gene for retinitis pigmentosa (RP), in Japanese patients with autosomal recessive (AR) or sporadic RP.

MATERIALS AND METHODS:

We included 146 unrelated Japanese patients with AR or sporadic RP who lacked mutations in genes known to be associated with RP despite next-generation sequencing-based screening. We sequenced the seven SLC7A14 coding exons along with their flanking intronic DNA using the Sanger method. The detected polymorphisms were assessed for their pathogenicity with in silico prediction tools. For those who had heterozygous, nonsynonymous variants, we performed multiplex ligation-dependent probe amplification (MLPA) to search for additional deletion/duplication.

RESULTS:

We detected four distinct SLC7A14 polymorphisms excluding synonymous polymorphisms. Two of these polymorphisms were assessed as detrimental by in silico prediction tools. However, all of the mutations were heterozygous. Neither homozygous polymorphisms nor compound heterozygous polymorphisms, which are considered detrimental variants, were detected. Neither deletion nor duplication was found with MLPA in patients with heterozygous variants.

CONCLUSIONS:

The four SLC7A14 mutations detected herein were unlikely to be pathogenic in this Japanese cohort. The frequency and pathogenicity of SLC7A14 mutations may vary depending on ethnicity, and these mutations may be rare in Japanese patients.

KEYWORDS:

MLPA; SLC7A14; Sanger sequencing; retinitis pigmentosa

PMID:
27028480
DOI:
10.3109/13816810.2015.1136336
[Indexed for MEDLINE]

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