title: Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
abstract: Dystrophic epidermolysis bullosa can be inherited in autosomal dominant and recessive forms, the former usually expressed as a milder phenotype, although mild forms of recessive dystrophic epidermolysis bullosa can occur. We present a patient who was found to be a compound heterozygote, inheriting a dominant mutation from his father and a recessive mutation from his mother, resulting in a clinically severe case of dystrophic epidermolysis bullosa. Mutations in the gene for collagen VII (COL7A1) have been documented in both types of dystrophic epidermolysis bullosa. Our patient has also been diagnosed with bilateral auditory neuropathy, a disorder coincidentally also mapped to a nearby gene on chromosome 3p21 (the transmembrane inner ear expressed gene, TMIE).
authors.affiliation: Division of Dermatology, University of Louisville, Louisville, Kentucky 40202, USA. sweinel@hotmail.com
authors.forename: Sarah
authors.initials: S
authors.lastname: Weinel
authors.forename: Anne W
authors.initials: AW
authors.lastname: Lucky
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
authors.forename: Ellen G
authors.initials: EG
authors.lastname: Pfendner
authors.forename: Daniel
authors.initials: D
authors.lastname: Choo
mesh_terms: D002675:Child, Preschool; D003054:Cochlear Implants; D003056:Cochlear Nerve; D024143:Collagen Type VII / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000628:therapy; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D000160:Vestibulocochlear Nerve Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D024143:Collagen Type VII