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Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype
Author(s) -
Shibusawa Y.,
Negishi I.,
Ishikawa O.
Publication year - 2006
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2006.02774.x
Subject(s) - compound heterozygosity , epidermolysis bullosa dystrophica , epidermolysis bullosa , nonsense mutation , phenotype , genetics , sibling , medicine , mutation , loss of heterozygosity , anchoring fibrils , splice site mutation , dermatology , gene , exon , biology , pathology , allele , missense mutation , psychology , developmental psychology , ultrastructure , alternative splicing
We describe two cases of a 3‐year‐old Japanese boy and his 1‐year‐old sister presenting recessive dystrophic epidermolysis bullosa; a relatively mild phenotype. Blistering and scarring were limited to the acral region, and some fingernails and toenails were lost. PCR‐RFLP and DNA sequencing analyses revealed compound heterozygotes for a splice‐site mutation (6573 +1GtoC) and a nonsense mutation (E2857X) in the type VII collagen gene (COL7A1). Both mutations caused a premature termination codon (PTC). The mutation E2857X was located behind the candidate cleavage site within the NC‐2 domain required for the assembly of anchoring fibrils. This PTC position may explain their mild phenotype.