PMID- 10084318
OWN - NLM
STAT- MEDLINE
DCOM- 19990413
LR  - 20071114
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 112
IP  - 3
DP  - 1999 Mar
TI  - A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.
PG  - 380-2
AB  - Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder
      with clinical features similar to epidermolytic hyperkeratosis (EHK). Both
      diseases have been linked to the type II keratin cluster on chromosome 12q.
      Hyperkeratosis and blister formation are relatively mild in IBS compared with
      EHK, and the lysis of keratinocytes is restricted to the upper spinous and
      granular layers of the epidermis of IBS patients, whereas in EHK lysis occurs in 
      the lower spinous layer. Recently, mutations in the helix initiation and
      termination motifs of keratin 2e (K2e) have been described in IBS patients. The
      majority of the mutations reported to date lie in the 2B region. In this report, 
      we have examined a large kindred in which the disease was originally diagnosed as
      EHK and mapped to the type II keratin cluster on chromosome 12q. Molecular
      analysis revealed a novel amino acid substitution at the beginning of the
      conserved 1A region of the rod domain (I4N) of K2e, resulting from a T to A
      transversion in codon 188.
FAU - Arin, M J
AU  - Arin MJ
AD  - Department of Cell Biology, Baylor College of Medicine, Houston, Texas, USA.
FAU - Longley, M A
AU  - Longley MA
FAU - Epstein, E H Jr
AU  - Epstein EH Jr
FAU - Scott, G
AU  - Scott G
FAU - Goldsmith, L A
AU  - Goldsmith LA
FAU - Rothnagel, J A
AU  - Rothnagel JA
FAU - Roop, D R
AU  - Roop DR
LA  - eng
GR  - HD25479/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
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  - Base Sequence/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Ichthyosis/*genetics
MH  - Keratin-2
MH  - Keratins/*genetics
MH  - Male
MH  - Mutation/*genetics
MH  - Pedigree
MH  - Skin Diseases, Vesiculobullous/*genetics
EDAT- 1999/03/20 03:13
MHDA- 2001/03/28 10:01
CRDT- 1999/03/20 03:13
PHST- 1999/03/20 03:13 [pubmed]
PHST- 2001/03/28 10:01 [medline]
PHST- 1999/03/20 03:13 [entrez]
AID - 10.1046/j.1523-1747.1999.00529.x [doi]
AID - S0022-202X(15)40429-4 [pii]
PST - ppublish
SO  - J Invest Dermatol. 1999 Mar;112(3):380-2. doi: 10.1046/j.1523-1747.1999.00529.x.