Portal de Periódicos da CAPES

Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene

2006; Elsevier BV; Volume: 126; Issue: 4 Linguagem: Inglês

10.1038/sj.jid.5700154

1523-1747

Matthias Titeux, J. Mazereeuw‐Hautier, S. Hadj‐Rabia, Cathérine Prost, Laure Tonasso, Sylvie Fraitag, Y. De Prost, Alain Hovnanian, Christine Bodemer,

Silk-based biomaterials and applications

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. 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. epidermolysis bullosa simplex-Dowling Meara keratin 14