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Pediatrics - Cardiology

Houston, Texas

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Pediatrics - Cardiology
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JUP Mutation Analysis

The JUP gene encodes the junction plakoglobin, a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. The JUP gene contains 14 exons and spans around 167.5 kb genomic distance that was mapped to chromosome 17q21.1. Mutations in JUP gene are associated with familial arrhythmogenic right ventricular dysplasia/cardiomyopathy type 12 (ARVD/C12) and Naxos disease. ARVD/C is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability and sudden death. Naxos disease is an autosomal recessive disorder that combines palmoplantar keratoderma and other ectodermal features with cardiac disorders suggesting arrhythmogenic right ventricular dysplasia/cardiomyopathy. Definitive genotype/phenotype correlations have not been described.

The John Welsh Cardiovascular Diagnostic Laboratory offers molecular genetic testing for JUP mutations. Individuals are tested by automatic fluorescent DNA sequencing of the coding exons of the JUP gene. We strongly recommend initial testing of a clearly affected individual, if available, in order to provide the greatest test sensitivity and clearest interpretation of results for subsequent family members. Genetic counseling is recommended for all individuals.

Reasons for Referral

Molecular confirmation of the diagnosis of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy type 12 (ARVD/C12) and Naxos disease.

Methodology

Genomic DNA is analyzed for JUP mutations by automatic fluorescent DNA sequencing of the coding exons of the JUP gene, as well as the exon/intron junctions and a portion of the 5' and 3' untranslated regions. Patient DNA is sequenced in both the forward and reverse orientations. If a mutation is identified, additional family members are analyzed only for the familial mutation by automatic fluorescent DNA sequencing.

Service Fees

Service Direct and Institutional Billing CPT Codes
Index Case (Full Gene) $1100 per sample 81406, G0452
Additional Family Members $300 per sample; known familial mutation only 81403, G0452

Sensitivity

DNA Sequencing Analysis: Approximately 99 percent detection of mutations in coding exons 1-14 of JUP.

Specimen Requirements

Blood (preferred): EDTA (purple-top) tubes: Adult: 5 cc, Child: 5 cc, Infant: 2-3 cc
Tissue: Frozen (preferred), RNAlater, Formalin-fixed, Paraffin-embedded
Other Body Fluids: Call to inquire
Buccal Swabs: One swab from each cheek

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