title: Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.
abstract: We report three unrelated patients affected at birth with an unusually severe form of epidermolysis bullosa simplex Dowling-Meara type (EBS-DM) because of mutations in KRT14 encoding keratin 14. Two patients were heterozygous for the previously described p.M119T mutation. The third patient was heterozygous for a novel c.1246delC mutation predicting the replacement of the helix termination peptide and the tail domain by a 25 amino-acid aberrant carboxyterminal sequence. At age 2 years, patients carrying the p.M119T mutation still suffered from severe EBS-DM, whereas the patient harboring the c.1246delC mutation has improved over time. These cases illustrate genotype-phenotype correlations and have implications for genetic counselling of EBS.
authors.affiliation: INSERM, U563, Toulouse, France.
authors.forename: Matthias
authors.initials: M
authors.lastname: Titeux
authors.forename: Juliette
authors.initials: J
authors.lastname: Mazereeuw-Hautier
authors.forename: Smaïl
authors.initials: S
authors.lastname: Hadj-Rabia
authors.forename: Catherine
authors.initials: C
authors.lastname: Prost
authors.forename: Laure
authors.initials: L
authors.lastname: Tonasso
authors.forename: Sylvie
authors.initials: S
authors.lastname: Fraitag
authors.forename: Yves
authors.initials: Y
authors.lastname: de Prost
authors.forename: Alain
authors.initials: A
authors.lastname: Hovnanian
authors.forename: Christine
authors.initials: C
authors.lastname: Bodemer
mesh_terms: D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology*; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D053547:Keratin-14; D007633:Keratins / Q000032:analysis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense; D012867:Skin / Q000737:chemistry / Q000648:ultrastructure
chemical_list: C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins