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Junctional Epidermolysis Bullosa with Muscular Dystrophy
Epidermolysis Bullosa, Junctional with Muscular Dystrophy
PLEC1 (Plectin)
The junctional forms of epidermolysis bullosa are a clinically and genetically heterogeneous group of severe congenital autosomal recessive blistering disorders. In this clinical sub-type, Junctional EB with Muscular Dystrophy (JEB-MD), blistering begins in the neonatal period and continues throughout life. In EB-MD blistering is usually milder, and muscular dystrophy may appear in late childhood to adulthood. In JEB-MD the tissue separation (blister) occurs just above the lamina lucida at the level of the hemidesmosome. Plectin staining of a skin biopsy may be reduced or absent consistent with plectin mutations. Muscle biopsies may also be stained for plectin in cases where MD is suspected and will show reduced or absent plectin staining. GeneDx suggests that the referring physician contact Beutner Laboratories in Buffalo, NY (716-838-0549) or Peter Marinkovich at Stanford University (650-725-5196) to arrange for immunohistochemical analysis of a skin biopsy from the affected individual. If these studies are consistent with absence or reduction of plectin, sequence analysis of the plectin gene (PLEC1) is recommended. PLEC1 sequencing of the coding region and splice sites of the PLEC1 gene is offered in two tiers. Tier 1 comprises sequencing of exons 31 and 32, where mutations in JEB-MD are frequently located, while Tier 2 includes sequence analysis of the remaining 30 exons. Approximately 90% of individuals with biopsy proven (skin and muscle biopsy) plectin deficiency and muscular dystrophy have plectin mutations detectable by sequencing. Once a mutation is identified in an affected individual, mutation-specific testing of other family members and prenatal diagnosis is available.
Information Sheet (PLEC1), including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
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