Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigree-Reference-Cited by-同舟云学术

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Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

Published:2014-12 Issue:1 Volume:15 Page:
ISSN:1471-2156
Container-title:BMC Genetics
language:en
Short-container-title:BMC Genet

Author:

Méndez-Vidal Cristina,Bravo-Gil Nereida,González-del Pozo María,Vela-Boza Alicia,Dopazo Joaquín,Borrego Salud,Antiñolo Guillermo

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12863-014-0143-2/fulltext.html

Reference38 articles.

1. Abd El-Aziz MM, Barragan I, O’Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G: EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet. 2008, 40 (11): 1285-1287. 10.1038/ng.241.

2. Barragan I, Borrego S, Pieras JI, Gonzalez-del Pozo M, Santoyo J, Ayuso C, Baiget M, Millan JM, Mena M, Abd El-Aziz MM, Audo I, Zeitz C, Littink KW, Dopazo J, Bhattacharya SS, Antinolo G: Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010, 31 (11): E1772-E1800. 10.1002/humu.21334.

3. Pieras JI, Barragan I, Borrego S, Audo I, Gonzalez-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antinolo G: Copy-number variations in EYS: a significant event in the appearance of arRP. Invest Ophthalmol Vis Sci. 2011, 52 (8): 5625-5631. 10.1167/iovs.11-7292.

4. Zaghloul NA, Katsanis N: Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009, 119 (3): 428-437. 10.1172/JCI37041.

5. Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA: Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet. 1997, 34 (2): 92-98. 10.1136/jmg.34.2.92.

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1. An Overview on the Genetic Etiology, Testing, and Therapeutic Options for Retinitis Pigmentosa;Genetics of Ocular Diseases;2022

2. A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog;Genes;2021-11-08

3. Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN;Journal of Clinical Medicine;2021-05-24

4. Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions;Frontiers in Cell and Developmental Biology;2021-02-19

5. A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification;International Journal of Molecular Sciences;2020-12-08

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