PMID- 10620137
OWN - NLM
STAT- MEDLINE
DCOM- 20000309
LR  - 20211203
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 114
IP  - 1
DP  - 2000 Jan
TI  - A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in
      a Japanese family with ichthyosis bullosa of Siemens.
PG  - 193-5
AB  - Ichthyosis bullosa of Siemens is a unique type of congenital ichthyosis
      characterized by mild hyperkeratosis over the flexural areas and blister
      formation after mechanical trauma and superficial denuded areas in the
      hyperkeratotic skin. Recently, mutations in the helix initiation or termination
      motifs of keratin 2e (KRT2E) have been described in ichthyosis bullosa of Siemens
      patients. The majority of the mutations reported to date lie in the 2B region. We
      report a novel amino acid substitution mutation (asparagine-->aspartic acid) in
      codon 192 at the conserved 1A helix initiation site of the rod domain of KRT2E in
      a Japanese family with ichthyosis bullosa of Siemens. Our data indicate aspartic 
      acid substitution in codon 192 in the 1A helix initiation site is deleterious to 
      keratin filament network integrity and leads to ichthyosis bullosa of Siemens
      phenotype.
FAU - Takizawa, Y
AU  - Takizawa Y
AD  - Department of Dermatology, Keio University School of Medicine, Shinjuku-ku,
      Tokyo, Japan. takizawa@med.keio.ac.jp
FAU - Akiyama, M
AU  - Akiyama M
FAU - Nagashima, M
AU  - Nagashima M
FAU - Shimizu, H
AU  - Shimizu H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 0 (KRT2 protein, human)
RN  - 0 (Keratin-2)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Amino Acid Sequence/genetics
MH  - Amino Acid Substitution/*genetics
MH  - Asians/*genetics
MH  - Base Sequence/genetics
MH  - Female
MH  - Humans
MH  - Ichthyosis/*genetics/pathology
MH  - Japan
MH  - Keratin-2
MH  - Keratins/*genetics
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Mutation/*genetics
MH  - Pedigree
MH  - Skin Diseases, Vesiculobullous/*genetics/pathology
EDAT- 2000/01/05 09:00
MHDA- 2000/03/11 09:00
CRDT- 2000/01/05 09:00
PHST- 2000/01/05 09:00 [pubmed]
PHST- 2000/03/11 09:00 [medline]
PHST- 2000/01/05 09:00 [entrez]
AID - S0022-202X(15)40752-3 [pii]
AID - 10.1046/j.1523-1747.2000.00817.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 2000 Jan;114(1):193-5. doi: 10.1046/j.1523-1747.2000.00817.x.