Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-01-26

AUTHORS

Thierry Vilboux, Daniel A. Doherty, Ian A. Glass, Melissa A. Parisi, Ian G. Phelps, Andrew R. Cullinane, Wadih Zein, Brian P. Brooks, Theo Heller, Ariane Soldatos, Neal L. Oden, Deniz Yildirimli, Meghana Vemulapalli, James C. Mullikin, NISC Comparative Sequencing Program, May Christine V. Malicdan, William A. Gahl, Meral Gunay-Aygun

ABSTRACT

Purpose:Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic “molar tooth sign” on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients.Methods:In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES).Results:We identified the causative gene in 94% of the families; 126 (27 novel) unique potentially pathogenic variants were found in 20 genes, including KIAA0753 and CELSR2, which had not previously been associated with JS. Genotype–phenotype correlation revealed the absence of retinal degeneration in patients with TMEM67, C5orf52, or KIAA0586 variants. Chorioretinal coloboma was associated with a decreased risk for retinal degeneration and increased risk for liver disease. TMEM67 was frequently associated with kidney disease.Conclusion:In JS, WES significantly increases the yield for molecular diagnosis, which is essential for reproductive counseling and the option of preimplantation and prenatal diagnosis as well as medical management and prognostic counseling for the age-dependent and progressive organ-specific manifestations, including retinal, liver, and kidney disease.Genet Med advance online publication 26 January 2017 More... »

PAGES

875-882

Journal

TITLE

Genetics in Medicine

ISSUE

8

VOLUME

19

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2016.204

DOI

http://dx.doi.org/10.1038/gim.2016.204

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1074199738

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28125082


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    "description": "Purpose:Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic \u201cmolar tooth sign\u201d on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients.Methods:In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES).Results:We identified the causative gene in 94% of the families; 126 (27 novel) unique potentially pathogenic variants were found in 20 genes, including KIAA0753 and CELSR2, which had not previously been associated with JS. Genotype\u2013phenotype correlation revealed the absence of retinal degeneration in patients with TMEM67, C5orf52, or KIAA0586 variants. Chorioretinal coloboma was associated with a decreased risk for retinal degeneration and increased risk for liver disease. TMEM67 was frequently associated with kidney disease.Conclusion:In JS, WES significantly increases the yield for molecular diagnosis, which is essential for reproductive counseling and the option of preimplantation and prenatal diagnosis as well as medical management and prognostic counseling for the age-dependent and progressive organ-specific manifestations, including retinal, liver, and kidney disease.Genet Med advance online publication 26 January 2017", 
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