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Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy
Joint Authors
El Shamieh, Said
Boulanger-Scemama, Elise
Lancelot, Marie-Elise
Antonio, Aline
Démontant, Vanessa
Condroyer, Christel
Letexier, Mélanie
Saraiva, Jean-Paul
Mohand-Saïd, Saddek
Audo, Isabelle
Zeitz, Christina
Sahel, José-Alain
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-01-06
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
We report ophthalmic and genetic findings in families with autosomal recessive rod-cone dystrophy (arRCD) and RP1 mutations.
Detailed ophthalmic examination was performed in 242 sporadic and arRCD subjects.
Genomic DNA was investigated using our customized next generation sequencing panel targeting up to 123 genes implicated in inherited retinal disorders.
Stringent filtering coupled with Sanger sequencing and followed by cosegregation analysis was performed to confirm biallelism and the implication of the most likely disease causing variants.
Sequencing identified 9 RP1 mutations in 7 index cases.
Eight of the mutations were novel, and all cosegregated with severe arRCD phenotype, found associated with additional macular changes.
Among the identified mutations, 4 belong to a region, previously associated with arRCD, and 5 others in a region previously associated with adRCD.
Our prevalence studies showed that RP1 mutations account for up to 2.5% of arRCD.
These results point out for the necessity of sequencing RP1 when genetically investigating sporadic and arRCD.
It further highlights the interest of unbiased sequencing technique, which allows investigating the implication of the same gene in different modes of inheritance.
Finally, it reports that different regions of RP1 can also lead to arRCD.
American Psychological Association (APA)
El Shamieh, Said& Boulanger-Scemama, Elise& Lancelot, Marie-Elise& Antonio, Aline& Démontant, Vanessa& Condroyer, Christel…[et al.]. 2015. Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy. BioMed Research International،Vol. 2015, no. 2015, pp.1-11.
https://search.emarefa.net/detail/BIM-1055658
Modern Language Association (MLA)
El Shamieh, Said…[et al.]. Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy. BioMed Research International No. 2015 (2015), pp.1-11.
https://search.emarefa.net/detail/BIM-1055658
American Medical Association (AMA)
El Shamieh, Said& Boulanger-Scemama, Elise& Lancelot, Marie-Elise& Antonio, Aline& Démontant, Vanessa& Condroyer, Christel…[et al.]. Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-11.
https://search.emarefa.net/detail/BIM-1055658
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1055658