Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype-Reference-Cited by-同舟云学术

Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype

Published:2021-11-09 Issue: Volume: Page:1-10
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Chowdhury Susmita¹²^ORCID,Duvesh Roopam¹^ORCID,Kumaran Manojkumar³⁴^ORCID,Anjanamurthy Rupa⁵,Kumar Jayant⁶^ORCID,Vanniarajan Ayyasamy⁷^ORCID,Devarajan Bharanidharan³^ORCID,Sundaresan Periasamy¹²^ORCID

Affiliation:

1. Department of Genetics, Aravind Medical Research Foundation, Madurai, India

2. Department of Molecular Biology, Aravind Medical Research Foundation - Affiliated to Alagappa University, Karaikudi, India

3. Department of Bioinformatics, Aravind Medical Research Foundation, Madurai, India

4. School of Chemical and Biotechnology, SASTRA (Deemed to Be University), Thanjavur, India

5. Department of Paediatric Ophthalmology & Adult Strabismus Services, Aravind Eye Hospital, Madurai, India

6. Department of Vitreo-Retina Services, Aravind Eye Hospital, Madurai, India

7. Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, India

Funder

the Department of Biotechnology, Ministry of Science and Technology

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1998553

Reference40 articles.

1. Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

2. Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

3. Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

4. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

5. Functional roles of bestrophins in ocular epithelia