Improving Diagnosis of Usher Syndrome with Exon Sequencing
Author Information
Author(s): Bonnet Crystel, Grati M'hamed, Marlin Sandrine, Levilliers Jacqueline, Hardelin Jean-Pierre, Parodi Marine, Niasme-Grare Magali, Zelenika Diana, Délépine Marc, Feldmann Delphine, Jonard Laurence, El-Amraoui Aziz, Weil Dominique, Delobel Bruno, Vincent Christophe, Dollfus Hélène, Eliot Marie-Madeleine, David Albert, Calais Catherine, Vigneron Jacqueline, Montaut-Verient Bettina, Bonneau Dominique, Dubin Jacques, Thauvin Christel, Duvillard Alain, Francannet Christine, Mom Thierry, Lacombe Didier, Duriez Françoise, Drouin-Garraud Valérie, Thuillier-Obstoy Marie-Françoise, Sigaudy Sabine, Frances Anne-Marie, Collignon Patrick, Challe Georges, Couderc Rémy, Lathrop Mark, Sahel José-Alain, Weissenbach Jean, Petit Christine, Denoyelle Françoise
Primary Institution: Unité de Génétique Médicale, INSERM UMRS 587, Hôpital d'Enfants Armand-Trousseau, AP-HP, Paris, France
Hypothesis
Can complete exon sequencing of all known Usher syndrome genes improve molecular diagnosis?
Conclusion
Complete exon sequencing of known Usher syndrome genes significantly enhances the accuracy of molecular diagnosis.
Supporting Evidence
- Biallelic mutations were detected in 39 patients (72%) and monoallelic mutations in an additional 10 patients (18.5%).
- 39 out of 81 mutations found were novel, indicating a high prevalence of previously unreported mutations.
- The current microarray method would have detected only 30 of the 81 different mutations identified.
Takeaway
Researchers looked at the genes that cause Usher syndrome, which affects hearing and vision, and found that a new testing method can find more problems than the old one.
Methodology
The study sequenced the coding exons and flanking regions of nine known USH genes in 54 patients with Usher syndrome.
Limitations
The study did not identify mutations in five patients, suggesting potential unknown genetic factors.
Participant Demographics
54 unrelated Caucasian patients, including five from Maghreb.
Digital Object Identifier (DOI)
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