Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.
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.
Titeux
Matthias
M
INSERM, U563, Toulouse, France.
Mazereeuw-Hautier
Juliette
J
Hadj-Rabia
Smaïl
S
Prost
Catherine
C
Tonasso
Laure
L
Fraitag
Sylvie
S
de Prost
Yves
Y
Hovnanian
Alain
A
Bodemer
Christine
C
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
C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins