dmg on butterfield ophthalmology department

Dmg On Butterfield Ophthalmology Department Code A 3144

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The purpose of this study was to identify pathogenic EYS variants, to determine the clinicalgenetic spectrum of EYS-associated retinal disease (EYS-RD), and to discover disease-associated variants with relatively high allele frequency (1-10) in a nationwide Japanese cohort.

Sixty-six affected subjects from 61 families with biallelic or multiple pathogenicdisease-associated EYS variants were ascertained by whole-exome sequencing.

Three phenotype groups were identified in EYS-RD: retinitis pigmentosa (RP; 85.94), cone-rod dystrophy (CORD; 10.94), and Leber congenital amaurosis (LCA; 3.12).

Twenty-six pathogenicdisease-associated EYS variants were identified, including seven novel variants.

The presence of EYS variants with relatively high AF highlights the importance of considering the pathogenicity of non-rare variants in relatively prevalent Mendelian disorders.

Individual investigators who participate in the sponsored project(s) are not directly compensated by the sponsor but may receive salary or other support from the institution to support their effort on the project(s).

Kaoru Fujinami is a paid consultant of Astellas Pharma Inc, Kubota Pharmaceutical Holdings Co., Ltd, Acucela Inc., Novartis AG., NightstaRx Limited, and Sanofi Genzyme.

Kaoru Fujinami reports personal fees from Astellas Pharma Inc, personal fees from Kubota Pharmaceutical Holdings Co., Ltd., personal fees from Acucela Inc., personal fees from Novartis AG., personal fees from SANTEN Company Limited, personal fees from Foundation Fighting Blindness, personal fees from Foundation Fighting Blindness Clinical Research Institute, and personal fees from Japanese Ophthalmology Society, personal fees from Japan Retinitis Pigmentosa Society.

The laboratory of Visual Physiology, Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan is supported by grants from Astellas Pharma Inc.

NCT03281005), outside the submitted work.

Toshihide Kurihara reports personal fees from Novartis Pharmaceuticals Japan, and Bayer Yakuhin, Ltd., outside the submitted work.

Dmg On Butterfield Ophthalmology Department Code A 3144

Exons 4 to 43 encode a 3144-amino acid protein containing 27 epidermal growth factor-like domains (highlighted with diagonal lines) and five laminin G-like domains (highlighted with horizontal lines) as well as one N-terminal signal peptide (highlighted with grey).

Truncating variants (nonsense, frameshift, and splice site alteration) are shown in red, and missense variants are shown in black.

Novel variants identified in this study are underlined.

B ) Distribution of the types of the detected variants.

In total, 26 variants were identified, including twelve missense variants (46), eight frameshift variants (31), five nonsense variants (19) and one splicing site alteration variant (4).

C ) Allele frequency (AF) of the detected variants in this EYS -RD cohort and in the general population presented in public databases.

A comparison of the causes of blindness certifications in England and Wales in working age adults (16-64 years), 1999-2000 with 2009-2010.

BMJ Open. 2014;4:e004015.

Retinitis pigmentosa.

Lancet. 2006;368:17951809.

S0140-6736(06)69740-7.

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Nat. Genet. 2008;40:12851287.