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Herlitz Junctional Epidermolysis Bullosa with a Novel Mutation in LAMB 3
Author(s) -
Kittridge Ashley,
Patel Riddhi,
Novoa Roberto,
Tamburro Joan
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12018
Subject(s) - junctional epidermolysis bullosa (veterinary medicine) , epidermolysis bullosa , medicine , mutation , laminin , phenotype , disease , genetic counseling , genetics , gene , dermatology , pathology , biology , extracellular matrix
Abstract Herlitz junctional epidermolysis bullosa (H‐ JEB ) is a rare, heritable mechanobullous disease that affects infants at birth and causes early death. This disease is primarily caused by compound heterozygous or homozygous mutations in one of three genes affecting the function of one of the three chains of the laminin‐332 (formerly laminin‐5) protein. Here we report a case of H‐ JEB with a novel heterozygous mutation in LAMB 3 ,c.1597G>A (p.Ala533Thr). These findings attest to the molecular heterogeneity of JEB and emphasize the importance of genetic analysis to help make an accurate diagnosis, predict clinical prognosis, and identify phenotypic‐genotypic relationships that may aid in prenatal diagnosis and genetic counseling for the future.