A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
We examined keratin K14 and K5 genes mutation in a Japanese Dowling-Meara epidermolysis bullosa simplex patient with severe generalized blistering and erosions at birth. The patient had a C to T transition at the first position of codon 174 in the keratin K5 gene, which resulted in a Leu->Phe substitution at the highly conserved 1A domain in keratin K5. Thus, our results revealed a novel mutation in the helix initiation peptide of keratin K5.
Nomura
K
K
Department of Dermatology, Hirosaki University School of Medicine, Japan.
Shimizu
H
H
Meng
X
X
Umeki
K
K
Tamai
K
K
Sawamura
D
D
Nagao
K
K
Kawakami
T
T
Nishikawa
T
T
Hashimoto
I
I
D000595:Amino Acid Sequence; D001483:Base Sequence; D017124:Conserved Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D007633:Keratins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes / Q000235:genetics
D015345:Oligonucleotide Probes; D007633:Keratins