Identification of a Homozygous One-Basepair Deletion in Exon 14 of the LAMB3 in a Patient with Herlitz Junctional Epidermolysis Bullosa and Prenatal Diagnosis in a Family at Risk for Recurrence

Herlitz junctional epidermolysis bullosa, a severe epidermal blistering disorder, is inherited in an autosomal recessive manner. It has recently been shown that, in kindreds with junctional epidermolysis bullosa, the disorder results from mutations in the γ2 chain of laminin-5, a basement membrane protein synthesized by the basal cells of stratifying squamous epithelia. In this report we describe a mutation identified in the β3 chain gene of laminin-5 in a faintly with Herlitz junctional epidermolysis bullosa. The disease is caused by a homozygous deletion of 1 bp that leads to a frameshift and premature termination codon. The segregation of the mutated allele in the family is consistent with the pathogenic role of the mutation. We also report a direct DNA-based prenatal exclusion of Herlitz junctional epidermolysis bullosa in a pregnancy at risk using a chorionic villus biopsy and allele-specific oligomer hybridization from polymerase chain reaction-amplified genomic DNA.