Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study

Ragkit Suvannaboon; Aulia Rahmi Pawestri; Worapoj Jinda; Aekkachai Tuekprakhon; Adisak Trinavarat; La ongsri Atchaneeyasakul

doi:10.1038/s41598-022-26017-0

Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study

Ragkit Suvannaboon
, Aulia Rahmi Pawestri
, Worapoj Jinda
, Aekkachai Tuekprakhon
, Adisak Trinavarat
, La ongsri Atchaneeyasakul^*

^*Corresponding author for this work

Faculty of Medicine

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

Abstract

Retinitis pigmentosa (RP) affects 1:5000 individuals worldwide. Interestingly, variations in 271 RP-related genes are indicated to vary among populations. We aimed to evaluate the genetic prevalence and phenotypic profiles of Thai patients with RP. The clinical and whole exome sequencing data of 125 patients suggestive of inherited retinal diseases (IRD), particularly non-syndromic RP, were assessed. We found a total of 258 variants (63% of which remained unavailable in the ClinVar database) in 91 IRD-associated genes. Among the detected genes, the eyes shut homolog (EYS) gene showed the highest prevalence. We also provide insights into the genotypic, baseline, and follow-up clinical presentations of seven patients with disease-causing EYS variations. This study could provide comprehension of the prevalence of RP-related genes involved in the Asian population. It might also provide information to establish advanced and personalised therapy for RP in the Thai population.

Original language	English
Article number	21494
Journal	Scientific Reports
Volume	12
Issue number	1
DOIs	https://doi.org/10.1038/s41598-022-26017-0
Publication status	Published - Dec 2022

Access to Document

10.1038/s41598-022-26017-0

Cite this

@article{94607a9cdd014edeb482764422232269,

title = "Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study",

abstract = "Retinitis pigmentosa (RP) affects 1:5000 individuals worldwide. Interestingly, variations in 271 RP-related genes are indicated to vary among populations. We aimed to evaluate the genetic prevalence and phenotypic profiles of Thai patients with RP. The clinical and whole exome sequencing data of 125 patients suggestive of inherited retinal diseases (IRD), particularly non-syndromic RP, were assessed. We found a total of 258 variants (63\% of which remained unavailable in the ClinVar database) in 91 IRD-associated genes. Among the detected genes, the eyes shut homolog (EYS) gene showed the highest prevalence. We also provide insights into the genotypic, baseline, and follow-up clinical presentations of seven patients with disease-causing EYS variations. This study could provide comprehension of the prevalence of RP-related genes involved in the Asian population. It might also provide information to establish advanced and personalised therapy for RP in the Thai population.",

author = "Ragkit Suvannaboon and Pawestri, \{Aulia Rahmi\} and Worapoj Jinda and Aekkachai Tuekprakhon and Adisak Trinavarat and Atchaneeyasakul, \{La ongsri\}",

note = "Publisher Copyright: {\textcopyright} 2022, The Author(s).",

year = "2022",

month = dec,

doi = "10.1038/s41598-022-26017-0",

language = "English",

volume = "12",

journal = "Scientific Reports",

issn = "2045-2322",

publisher = "Nature Research",

number = "1",

}

TY - JOUR

T1 - Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa

T2 - a retrospective study

AU - Suvannaboon, Ragkit

AU - Pawestri, Aulia Rahmi

AU - Jinda, Worapoj

AU - Tuekprakhon, Aekkachai

AU - Trinavarat, Adisak

AU - Atchaneeyasakul, La ongsri

PY - 2022/12

Y1 - 2022/12

N2 - Retinitis pigmentosa (RP) affects 1:5000 individuals worldwide. Interestingly, variations in 271 RP-related genes are indicated to vary among populations. We aimed to evaluate the genetic prevalence and phenotypic profiles of Thai patients with RP. The clinical and whole exome sequencing data of 125 patients suggestive of inherited retinal diseases (IRD), particularly non-syndromic RP, were assessed. We found a total of 258 variants (63% of which remained unavailable in the ClinVar database) in 91 IRD-associated genes. Among the detected genes, the eyes shut homolog (EYS) gene showed the highest prevalence. We also provide insights into the genotypic, baseline, and follow-up clinical presentations of seven patients with disease-causing EYS variations. This study could provide comprehension of the prevalence of RP-related genes involved in the Asian population. It might also provide information to establish advanced and personalised therapy for RP in the Thai population.

AB - Retinitis pigmentosa (RP) affects 1:5000 individuals worldwide. Interestingly, variations in 271 RP-related genes are indicated to vary among populations. We aimed to evaluate the genetic prevalence and phenotypic profiles of Thai patients with RP. The clinical and whole exome sequencing data of 125 patients suggestive of inherited retinal diseases (IRD), particularly non-syndromic RP, were assessed. We found a total of 258 variants (63% of which remained unavailable in the ClinVar database) in 91 IRD-associated genes. Among the detected genes, the eyes shut homolog (EYS) gene showed the highest prevalence. We also provide insights into the genotypic, baseline, and follow-up clinical presentations of seven patients with disease-causing EYS variations. This study could provide comprehension of the prevalence of RP-related genes involved in the Asian population. It might also provide information to establish advanced and personalised therapy for RP in the Thai population.

UR - https://www.scopus.com/pages/publications/85143911351

U2 - 10.1038/s41598-022-26017-0

DO - 10.1038/s41598-022-26017-0

M3 - Article

C2 - 36513702

AN - SCOPUS:85143911351

SN - 2045-2322

VL - 12

JO - Scientific Reports

JF - Scientific Reports

IS - 1

M1 - 21494

ER -

Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study

Abstract

Access to Document

Other files and links

Fingerprint

Cite this