Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.

PloS One
Katsuhiro HosonoY Hotta

Abstract

Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease including autosomal recessive (ar), autosomal dominant (ad), and X-linked inheritance. Recently, arRP has been associated with mutations in EYS (Eyes shut homolog), which is a major causative gene for this disease. This study was conducted to determine the spectrum and frequency of EYS mutations in 100 Japanese arRP patients. To determine the prevalence of EYS mutations, all EYS exons were screened for mutations by polymerase chain reaction amplification, and sequence analysis was performed. We detected 67 sequence alterations in EYS, of which 21 were novel. Of these, 7 were very likely pathogenic mutations, 6 were possible pathogenic mutations, and 54 were predicted non-pathogenic sequence alterations. The minimum observed prevalence of distinct EYS mutations in our study was 18% (18/100, comprising 9 patients with 2 very likely pathogenic mutations and the remaining 9 with only one such mutation). Among these mutations, 2 novel truncating mutations, c.4957_4958insA (p.S1653KfsX2) and c.8868C>A (p.Y2956X), were identified in 16 patients and accounted for 57.1% (20/35 alleles) of the mutated alleles. Although these 2 truncating mutations were not detected in Ja...Continue Reading

References

Jun 13, 2001·American Journal of Human Genetics·B DreyerO Nilssen
Aug 25, 2004·Experimental Eye Research·Babak Jian SeyedahmadiThaddeus P Dryja
Nov 23, 2006·Lancet·Dyonne T HartongThaddeus P Dryja
Mar 20, 2010·Investigative Ophthalmology & Visual Science·Mai M Abd El-AzizShomi S Bhattacharya
Mar 25, 2010·Human Mutation·Isabelle AudoChristina Zeitz
Apr 9, 2010·Investigative Ophthalmology & Visual Science·Dikla Bandah-RozenfeldDror Sharon
Nov 12, 2010·Human Mutation·Isabel BarragánGuillermo Antiñolo
Apr 27, 2011·Investigative Ophthalmology & Visual Science·Juan I PierasGuillermo Antiñolo

❮ Previous
Next ❯

Citations

Mar 22, 2014·Documenta Ophthalmologica. Advances in Ophthalmology·Satoshi KatagiriTakeshi Iwata
Sep 18, 2013·Proceedings of the National Academy of Sciences of the United States of America·Koji M NishiguchiCarlo Rivolta
Apr 16, 2016·Human Genome Variation·Tadashi YokoiNoriyuki Azuma
Feb 21, 2013·Ophthalmic Genetics·Kimiko SutoYoshihiro Hotta
Jun 23, 2015·Journal of Ophthalmology·Katsuhiro HosonoYoshihiro Hotta
Dec 17, 2017·Cancer Science·Chihiro UdagawaHitoshi Zembutsu
Aug 29, 2018·Ophthalmic Genetics·Dario Pasquale MuccioloStanislao Rizzo
May 11, 2019·Investigative Ophthalmology & Visual Science·Laurence H M PierracheL Ingeborgh van den Born
May 24, 2019·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Shimpei TakitaYuko Seko
Jun 20, 2019·Journal of Medical Genetics·Yoshito KoyanagiKoh-Hei Sonoda
Aug 5, 2020·Investigative Ophthalmology & Visual Science·Yoshito KoyanagiHiroko Terasaki
Jul 22, 2018·Documenta Ophthalmologica. Advances in Ophthalmology·Kentaro KurataYoshihiro Hotta
Mar 21, 2020·Japanese Journal of Ophthalmology·Koji Miura NishiguchiToru Nakazawa
Nov 2, 2019·Human Genome Variation·Daisuke MiyamichiNoriyuki Azuma
Dec 11, 2014·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Vera L BonilhaStephanie A Hagstrom
May 18, 2017·Case Reports in Ophthalmology·Kentaro KurataYoshihiro Hotta
Apr 19, 2018·Japanese Journal of Ophthalmology·Kentaro KurataYoshihiro Hotta
Mar 29, 2020·American Journal of Medical Genetics. Part a·Takaaki HayashiYoshihiro Hotta
May 23, 2018·Japanese Journal of Ophthalmology·Akiko MaedaMasayo Takahashi
May 31, 2019·Journal of Korean Medical Science·Min Seok KimSe Joon Woo
Feb 26, 2021·Japanese Journal of Ophthalmology·Yoshito KoyanagiKoh-Hei Sonoda
Mar 12, 2021·BMC Medical Genomics·Dae Joong MaHyeong Gon Yu
May 19, 2021·Orphanet Journal of Rare Diseases·Ana B Garcia-DelgadoBerta de la Cerda

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

PMut
SNAP
PolyPhen2
SIFT

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.