Implication of non-coding PAX6 mutations in aniridia

Author:

Plaisancié JulieORCID,Tarilonte M.,Ramos P.,Jeanton-Scaramouche C.,Gaston V.,Dollfus H.,Aguilera D.,Kaplan J.,Fares-Taie L.,Blanco-Kelly F.,Villaverde C.,Francannet C.,Goldenberg A.,Arroyo I.,Rozet J. M.,Ayuso C.,Chassaing N.,Calvas P.,Corton M.

Funder

Spanish Institute of Health Carlos III (ISCIII) / European Regional Development Fund

Spanish Ministry of Economy and Competitiveness/ERDF

the Ramon Areces Foundation and Regional Government of Madrid

Miguel Servet Program

Conchita Rabago PhD fellowship

Gêniris funding

Retina France funding

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference60 articles.

1. Aggarwal S, Jinda W, Limwongse C, Atchaneeyasakul LO, Phadke SR (2011) Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia. Mol Vis 17:1305–1309

2. Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR (2016) Genetic analysis of ‘PAX6-negative’ individuals with aniridia or gillespie syndrome. PLoS One 11:e0153757. https://doi.org/10.1371/journal.pone.0153757

3. Axton RA, Hanson IM, Love J, Seawright A, Prosser J, van Heyningen V (1997) Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. Mol Cell Probes 11:287–292. https://doi.org/10.1006/mcpr.1997.0117

4. Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M (1999) Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet 65:656–663. https://doi.org/10.1086/302529

5. Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M (2003) Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 72:1565–1570. https://doi.org/10.1086/375555

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