PMID- 11204523
OWN - NLM
STAT- MEDLINE
DCOM- 20010412
LR  - 20191025
IS  - 0926-9959 (Print)
IS  - 0926-9959 (Linking)
VI  - 14
IP  - 4
DP  - 2000 Jul
TI  - Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital 
      ichthyosiform erythroderma.
PG  - 304-6
AB  - Recently, mutations of keratin 1 gene (KRT1) and keratin 10 gene (KRT10) have 
      been reported in various patients with bullous congenital ichthyosiform 
      erythroderma (BCIE). The substitution of arginine (R) to histidine (H) at amino 
      acid residue 156 (R156H) of coiled 1A region is one of the most frequent 
      mutations of KRT10. In this study, we searched for a mutation in KRT1 and KRT10 
      in a Japanese family with BCIE and detected mutation R156H in KRT10. Our search 
      led to the detection of R156H. This mutation was not detected in 50 normal 
      individuals. These results confirmed that codon 156 is a frequently mutated site, 
      and that R156H in KRT10 is likely also to be a mutation hotspot in Japanese 
      patients with BCIE.
FAU - Mayuzumi, N
AU  - Mayuzumi N
AD  - Department of Dermatology, Juntendo University, School of Medicine, Tokyo, Japan.
FAU - Shigihara, T
AU  - Shigihara T
FAU - Ikeda, S
AU  - Ikeda S
FAU - Ogawa, H
AU  - Ogawa H
LA  - eng
PT  - Journal Article
PL  - England
TA  - J Eur Acad Dermatol Venereol
JT  - Journal of the European Academy of Dermatology and Venereology : JEADV
JID - 9216037
RN  - 0 (Codon)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Amino Acid Substitution
MH  - Codon
MH  - Female
MH  - Humans
MH  - Hyperkeratosis, Epidermolytic/*genetics/pathology
MH  - Japan
MH  - Keratins/*genetics
MH  - Male
MH  - *Mutation
MH  - Pedigree
EDAT- 2001/02/24 12:00
MHDA- 2001/04/17 10:01
CRDT- 2001/02/24 12:00
PHST- 2001/02/24 12:00 [pubmed]
PHST- 2001/04/17 10:01 [medline]
PHST- 2001/02/24 12:00 [entrez]
AID - 10.1046/j.1468-3083.2000.00101.x [doi]
PST - ppublish
SO  - J Eur Acad Dermatol Venereol. 2000 Jul;14(4):304-6. doi: 
      10.1046/j.1468-3083.2000.00101.x.