Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

Author:

Xu Yan,Guan Liping,Shen Tao,Zhang Jianguo,Xiao Xueshan,Jiang Hui,Li Shiqiang,Yang Jianhua,Jia Xiaoyun,Yin Ye,Guo Xiangming,Wang Jun,Zhang Qingjiong

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference83 articles.

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2. Audo I, Bujakowska KM, Leveillard T, Mohand-Said S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M, Sahel JA, Bhattacharya SS, Zeitz C (2012) Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis 7:8. doi: 10.1186/1750-1172-7-8

3. Avila-Fernandez A, Cantalapiedra D, Aller E, Vallespin E, Aguirre-Lamban J, Blanco-Kelly F, Corton M, Riveiro-Alvarez R, Allikmets R, Trujillo-Tiebas MJ, Millan JM, Cremers FP, Ayuso C (2010) Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis 16:2550–2558

4. Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T (2003) X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci 44:1458–1463

5. Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D (2010) Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci 51:4387–4394. doi: 10.1167/iovs.09-4732

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