PMID- 10632938
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20190910
IS  - 0736-8046 (Print)
IS  - 0736-8046 (Linking)
VI  - 16
IP  - 6
DP  - 1999 Nov-Dec
TI  - Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar
      keratoderma.
PG  - 430-5
AB  - The palmoplantar keratodermas (PPK) are a heterogeneous group of conditions, most
      frequently inherited in autosomal dominant fashion. A few are well-documented
      autosomal recessive disorders; other are acquired in association with certain
      metabolic disorders and malignancies. Recently different point mutations of the
      keratin 9 (K9) gene have been identified in unrelated families with epidermolytic
      palmoplantar keratoderma (EPPK). We investigated two unrelated Hungarian families
      with EPPK. In one, a mutation consisting of a G-->A transversion at nucleotide
      position 551, which changes codon arginine to glutamine at codon 162 (R162Q), was
      found. In the other, we observed a novel mutation at nucleotide position 571,
      which changes codon 169 lysine (AAG) into the amber stop codon (TAG) (K169X).
      Each found mutation is present in the highly conserved coil 1A region of the rod 
      domain. In the case of a stop codon type of mutation, it is questionable whether 
      it really results in a clinical phenotype, but segregation analysis revealed
      cosegregation of the PPK phenotype with the mutant allele.
FAU - Szalai, S
AU  - Szalai S
AD  - Department of Dermatology, Heim Pal Children's Hospital, Budapest, Hungary.
FAU - Szalai, C
AU  - Szalai C
FAU - Becker, K
AU  - Becker K
FAU - Torok, E
AU  - Torok E
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Pediatr Dermatol
JT  - Pediatric dermatology
JID - 8406799
RN  - 0 (DNA Primers)
RN  - 68238-35-7 (Keratins)
SB  - IM
CIN - Pediatr Dermatol. 1999 Nov-Dec;16(6):483-6. PMID: 10632954
MH  - Adult
MH  - Child
MH  - DNA Primers
MH  - Epidermis/*pathology
MH  - Female
MH  - Humans
MH  - Keratins/*genetics
MH  - Keratoderma, Palmoplantar/*genetics/pathology
MH  - Male
MH  - *Mutation
MH  - Pedigree
EDAT- 2000/01/13 00:00
MHDA- 2000/01/13 00:01
CRDT- 2000/01/13 00:00
PHST- 2000/01/13 00:00 [pubmed]
PHST- 2000/01/13 00:01 [medline]
PHST- 2000/01/13 00:00 [entrez]
AID - pde111 [pii]
AID - 10.1046/j.1525-1470.1999.00111.x [doi]
PST - ppublish
SO  - Pediatr Dermatol. 1999 Nov-Dec;16(6):430-5. doi:
      10.1046/j.1525-1470.1999.00111.x.