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Japanese Journal of Ophthalmology
Erschienen in: Japanese Journal of Ophthalmology 4/2018

21.05.2018 | Clinical Investigation

Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population

verfasst von: Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, Masayo Takahashi

Erschienen in: Japanese Journal of Ophthalmology | Ausgabe 4/2018

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Abstract

Purpose

Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population.

Study design

Evaluation of diagnostic technology, Prospective, Clinical and experimental study.

Methods

A panel of 39 genes reported to cause RP in Japanese patients was established. Next generation sequence (NGS) technology was applied for the analyses of 94 probands with RP and RP-related diseases. After interpretation of detected genetic variants, molecular diagnosis based on a study of the genetic variants and a clinical phenotype was made by a multidisciplinary team including clinicians, researchers and genetic counselors.

Results

NGS analyses found 14,343 variants from 94 probands. Among them, 189 variants in 83 probands (88.3% of all cases) were selected as pathogenic variants and 64 probands (68.1%) have variants which can cause diseases. After the deliberation of these 64 cases, molecular diagnosis was made in 43 probands (45.7%). The final molecular diagnostic rate with the current system combining supplemental Sanger sequencing was 47.9% (45 of 94 cases).

Conclusions

The RP panel provides the significant advantage of detecting genetic variants with a high molecular diagnostic rate. This type of race-specific high-throughput genotyping allows us to conduct a cost-effective and clinically useful genetic diagnostic test.
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Metadaten
Titel
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population
verfasst von
Akiko Maeda
Akiko Yoshida
Kanako Kawai
Yuki Arai
Ryutaro Akiba
Akira Inaba
Seiji Takagi
Ryoji Fujiki
Yasuhiko Hirami
Yasuo Kurimoto
Osamu Ohara
Masayo Takahashi
Publikationsdatum
21.05.2018
Verlag
Springer Japan
Erschienen in
Japanese Journal of Ophthalmology / Ausgabe 4/2018
Print ISSN: 0021-5155
Elektronische ISSN: 1613-2246
DOI
https://doi.org/10.1007/s10384-018-0601-x

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