83 352

Cited 0 times in

A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.

Authors
Yang, JM; Lee, ES; Kang, HJ; Choi, GS; Yoneda, K; Jung, SY; Park, KB; Steinert, PM
Citation
Acta dermato-venereologica, 78(6):417-419, 1998
Journal Title
Acta dermato-venereologica
ISSN
0001-55551651-2057
Abstract
Ichthyosis bullosa of Siemens is a rare autosomal dominant skin disorder whose clinical findings are quite similar to those of epidermolytic hyperkeratosis. The differences between those two diseases include absence of erythroderma and different distributions in the skin in ichthyosis bullosa of Siemens. Recent studies have confirmed that ichthyosis bullosa of Siemens is caused by the mutation in the keratin 2e (K2e) gene, which is expressed in the upper spinous and granular layers. We have identified a sporadic case of ichthyosis bullosa of Siemens; based on diagnosis by histopathological findings, the K2e gene of the patient was analysed. Direct sequencing of PCR products revealed a single base change in sequences encoding the highly conserved end of the 2B rod domain segment of the K2e gene. This mutation results in substitution of the codon for glutamic acid by a codon for lysine in position 493 in K2e (E493K). Mutations of the K2e gene involving five different residue positions (Q187P, T485P, L490P, E493D, E493K and E494K) are known to cause ichthyosis bullosa of Siemens. Of these sites, E493, which is conserved in type I and type II keratin genes, is the most frequently altered amino acid in the K2e gene. These data together suggest that this codon constitutes a hot spot for mutations in the K2e gene.
MeSH terms
Amino Acid SubstitutionBase SequenceChild, PreschoolCodon/geneticsConserved Sequence/geneticsEpidermis/metabolismExons/geneticsGlutamic Acid/*geneticsHumansHyperkeratosis, Epidermolytic/geneticsIchthyosis/*genetics/pathologyKeratin-2Keratins/*geneticsLysine/*geneticsMaleMicroscopy, ElectronPoint Mutation/*geneticsPolymerase Chain ReactionSequence Analysis, DNA
PMID
9833038
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Dermatology
AJOU Authors
이, 은소
Files in This Item:
Full-Text Not Available.txtDownload
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse