PMID- 10652003
OWN - NLM
STAT- MEDLINE
DCOM- 20000315
LR  - 20131121
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 114
IP  - 2
DP  - 2000 Feb
TI  - A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a
      familial case of white sponge nevus.
PG  - 388-91
AB  - White Sponge Nevus (WSN) is a rare, autosomal dominant disorder that
      predominantly affects noncornified stratified squamous epithelia. Clinically, it 
      is characterized by the presence of soft, white, and "spongy" plaques in the oral
      mucosa. The characteristic histopathologic features are epithelial thickening,
      parakeratosis, and vacuolization of the suprabasal layer of oral epithelial
      keratinocytes. Mutations in keratin 4 (K4) and keratin 13 (K13) genes have
      already been demonstrated to be responsible for WSN; the identification of new
      keratin mutations in a stratified squamous epithelia closely related to epidermis
      is of relevance for the understanding of the biochemistry of intermediate
      filaments, and for genotype phenotype correlations. In this study we investigated
      a 27-y-old, female Italian patient, affected by white asymptomatic oral plaques. 
      Sequence analysis revealed a 3 bp (ACA) heterozygous insertion localized in the
      helix initiation motif of the 1A alpha helical domain of K4. We report this new
      K4 gene mutation and describe an amino acid insertion, in the 1A domain,
      responsible for a keratin disease.
FAU - Terrinoni, A
AU  - Terrinoni A
AD  - Biochemistry Laboratory, IDI-IRCCS, c/o Department of Experimental Medicine,
      University of Rome "Tor Vergata", Rome, Italy.
FAU - Candi, E
AU  - Candi E
FAU - Oddi, S
AU  - Oddi S
FAU - Gobello, T
AU  - Gobello T
FAU - Camaione, D B
AU  - Camaione DB
FAU - Mazzanti, C
AU  - Mazzanti C
FAU - Zambruno, G
AU  - Zambruno G
FAU - Knight, R
AU  - Knight R
FAU - Melino, G
AU  - Melino G
LA  - eng
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 (DNA Transposable Elements)
RN  - 0RH81L854J (Glutamine)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Adult
MH  - DNA Mutational Analysis
MH  - DNA Transposable Elements
MH  - Family Health
MH  - Female
MH  - Glutamine/*genetics
MH  - Hamartoma/*genetics
MH  - Humans
MH  - Keratins/*genetics
MH  - Mouth Diseases/*genetics
MH  - *Mouth Mucosa
MH  - Pedigree
MH  - Protein Structure, Tertiary
EDAT- 2000/01/29 09:00
MHDA- 2000/03/18 09:00
CRDT- 2000/01/29 09:00
PHST- 2000/01/29 09:00 [pubmed]
PHST- 2000/03/18 09:00 [medline]
PHST- 2000/01/29 09:00 [entrez]
AID - S0022-202X(15)40781-X [pii]
AID - 10.1046/j.1523-1747.2000.00890.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 2000 Feb;114(2):388-91. doi: 10.1046/j.1523-1747.2000.00890.x.