Literature DB >> 10627133

Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.

M J Trujillo1, J Bueno, A Osorio, R Sanz, B Garcia-Sandoval, C Ramos, C Ayuso.   

Abstract

Among 43 unrelated Spanish patients affected with autosomal dominant (AD) photoreceptor disorders a study of RDS-peripherin gene was performed. We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP.

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Year:  1998        PMID： 10627133     DOI： 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  6 in total

1.  Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.

Authors:  Jacque L Duncan; Katherine E Talcott; Kavitha Ratnam; Sanna M Sundquist; Anya S Lucero; Shelley Day; Yuhua Zhang; Austin Roorda
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-03-01       Impact factor: 4.799

2.  PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Authors:  Manon H C A Peeters; Mubeen Khan; Anoek A M B Rooijakkers; Timo Mulders; Lonneke Haer-Wigman; Camiel J F Boon; Caroline C W Klaver; L Ingeborgh van den Born; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander; Claire-Marie Dhaenens; Rob W J Collin
Journal:  Hum Mutat       Date:  2021-09-20       Impact factor: 4.700

3.  New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.

Authors:  João Paulo Kazmierczak de Camargo; Giovanna Nazaré de Barros Prezia; Naoye Shiokawa; Mario Teruo Sato; Roberto Rosati; Angelica Beate Winter Boldt
Journal:  Front Genet       Date:  2022-05-17       Impact factor: 4.772

4.  High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

Authors:  María José Gamundi; Imma Hernan; Marta Muntanyola; María José Trujillo; Blanca García-Sandoval; Carmen Ayuso; Montserrat Baiget; Miguel Carballo
Journal:  Mol Vis       Date:  2007-06-28       Impact factor: 2.367

5.  Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.

Authors:  Camiel J F Boon; Mary J van Schooneveld; Anneke I den Hollander; Janneke J C van Lith-Verhoeven; Marijke N Zonneveld-Vrieling; Thomas Theelen; Frans P M Cremers; Carel B Hoyng; B Jeroen Klevering
Journal:  Br J Ophthalmol       Date:  2007-05-15       Impact factor: 4.638

6.  Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

Authors:  Samuel P Strom; Yong-Qing Gao; Ariadna Martinez; Carolina Ortube; Zugen Chen; Stanley F Nelson; Steven Nusinowitz; Deborah B Farber; Michael B Gorin
Journal:  BMC Med Genet       Date:  2012-08-03       Impact factor: 2.103
  6 in total

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