Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe-Reference-Cited by-同舟云学术

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe

Published:2018-12 Issue:12 Volume:176 Page:2695-2703
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wormser Ohad¹,Gradstein Libe²,Kadar Einat¹,Yogev Yuval¹,Perez Yonatan¹,Mashkit Elena³,Elbedour Khalil³,Drabkin Max¹,Markus Barak⁴,Kadir Rotem¹,Halperin Daniel¹,Khalaila Soltan²,Levy Jaime⁵,Lifshitz Tova²,Manor Esther³,Birk Ohad S.¹³^ORCID

Affiliation:

1. The Morris Kahn Laboratory of Human Genetics; National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev; Beer Sheva Israel

2. Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences; Ben-Gurion University of the Negev; Beer Sheva Israel

3. Genetics Institute, Soroka Medical Center, Faculty of Health Sciences; Ben-Gurion University of the Negev; Beer Sheva Israel

4. The Nancy and Stephen Grand Israel National Center for Personalized Medicine; Weizmann Institute of Science; Rehovot Israel

5. Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine; Hebrew University; Jerusalem Israel

Funder

Ministry of Health, State of Israel

Ministry of Science and Technology, Israel

National Knowledge Center for Rare/Orphan Diseases

Foundation Fighting Blindness

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40668/fullpdf

Reference47 articles.

1. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa;Abd El-Aziz;Nature Genetics,2008

2. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease;Abu-safieh;Genes,2013

3. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

4. Discovery of mutations for Mendelian disorders;Alkuraya;Human Genetics,2016

5. EYS is a major gene for rod-cone dystrophies in France;Audo;Human Mutation,2010

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