PMID- 10561721
OWN - NLM
STAT- MEDLINE
DCOM- 20000710
LR  - 20191103
IS  - 1354-523X (Print)
IS  - 1354-523X (Linking)
VI  - 5
IP  - 4
DP  - 1999 Oct
TI  - Identification of two novel mutations in keratin 13 as the cause of white sponge 
      naevus.
PG  - 321-4
AB  - BACKGROUND: White sponge naevus (WSN) is a rare autosomal dominant condition
      which is characterised by benign, white spongy plaques (oral leukokeratoses)
      affecting non-cornifying, wet mucosa. WSN shares several ultrastructural
      characteristics (eg, epithelial thickening, acanthosis, keratin filament
      aggregation) with a number of epithelial disorders caused by mutations in keratin
      genes and to-date two mutations, one in each of the mucosal specific keratins, K4
      and K13, have been identified as the molecular basis of the disorder. OBJECTIVES:
      To identify the molecular basis of WSN in two families with a history of the
      disease. RESULTS: Two novel mutations were identified in helix initiation motif
      of K13. A T-to-C transition was found in the affected members of one family which
      is predicted to change leucine115 to proline. In the second family, a similar
      T-to-C transition was found in codon 108 which is predicted to change methionine 
      to threonine in the protein sequence. These changes were not found in 50
      unrelated, unaffected individuals. CONCLUSIONS: The mutations in the helix
      initiation motif of K13 are the cause of WSN in these families. These cases
      confirm mutations in the mucosal specific keratins as a significant cause of the 
      disorder.
FAU - Rugg, E
AU  - Rugg E
AD  - Cancer Research Campaign Cell Structure Research Group, Department of Anatomy &
      Physiology, University of Dundee, Dundee DD1 5EH, UK.
FAU - Magee, G
AU  - Magee G
FAU - Wilson, N
AU  - Wilson N
FAU - Brandrup, F
AU  - Brandrup F
FAU - Hamburger, J
AU  - Hamburger J
FAU - Lane, E
AU  - Lane E
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Oral Dis
JT  - Oral diseases
JID - 9508565
RN  - 2ZD004190S (Threonine)
RN  - 68238-35-7 (Keratins)
RN  - 9DLQ4CIU6V (Proline)
RN  - AE28F7PNPL (Methionine)
RN  - GMW67QNF9C (Leucine)
MH  - Adolescent
MH  - Amino Acid Motifs
MH  - Amino Acid Substitution
MH  - Child
MH  - Female
MH  - Hamartoma/*genetics
MH  - Humans
MH  - Keratins/*genetics
MH  - Leucine/genetics
MH  - Male
MH  - Methionine/genetics
MH  - Mouth Mucosa/pathology
MH  - Mucous Membrane/pathology
MH  - Pedigree
MH  - Point Mutation
MH  - Proline/genetics
MH  - Threonine/genetics
MH  - Vagina
EDAT- 1999/11/24 09:00
MHDA- 2000/07/15 11:00
CRDT- 1999/11/24 09:00
PHST- 1999/11/24 09:00 [pubmed]
PHST- 2000/07/15 11:00 [medline]
PHST- 1999/11/24 09:00 [entrez]
AID - 10.1111/j.1601-0825.1999.tb00097.x [doi]
PST - ppublish
SO  - Oral Dis. 1999 Oct;5(4):321-4. doi: 10.1111/j.1601-0825.1999.tb00097.x.