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Article

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Orphanet journal of rare diseases - 25 Jan 2012

Audo Isabelle, Bujakowska Kinga M, Léveillard Thierry, Mohand-Saïd Saddek, Lancelot Marie-Elise, Germain Aurore, Antonio Aline, Michiels Christelle, Saraiva Jean-Paul, Letexier Mélanie, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christina

Abstract excerpt

BACKGROUND: Inherited retinal disorders are clinically and genetically heterogeneous with more than 150 gene defects accounting for the diversity of disease phenotypes. So far, mutation detection was mainly performed by APEX technology and direct Sanger sequencing of known genes. However, these methods are time consuming, expensive and unable to provide a result if the patient carries a new gene mutation. In...

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Identifiers

PMID: 22277662
DOI: 10.1186/1750-1172-7-8
PMCID: PMC3352121

Genes

CRB1
EYS
PRPF3
PRPF8
TRPM1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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