PMID- 26338057
OWN - NLM
STAT- MEDLINE
DCOM- 20170106
LR  - 20170107
IS  - 1365-2230 (Electronic)
IS  - 0307-6938 (Linking)
VI  - 41
IP  - 3
DP  - 2016 Apr
TI  - Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated 
      with a new missense mutation in keratin 10.
PG  - 290-3
LID - 10.1111/ced.12751 [doi]
AB  - Mutations in the keratin 10 gene (KRT10) have been shown to underlie several 
      forms of epidermolytic ichthyosis (EI), including generalized, annular and 
      naevoid variants. We investigated an autosomal dominant pedigree with ichthyosis 
      in which there was intrafamilial clinical heterogeneity, with the affected 
      individual family members presenting with features of either erythrokeratoderma 
      progressiva, annular EI, localized or superficial EI, or more generalized EI. 
      Sanger sequencing identified a new heterozygous missense mutation (c.457C>A; 
      p.Leu153Met) in KRT10 in all affected individuals. No additional mutations were 
      identified in the genes for keratin 1 (KRT1) keratin 2 (KRT2), connexin 31 (GJB3) 
      or connexin 30.3 (GJB4) that might account for the clinical heterogeneity seen in 
      this family. Our findings illustrate the intrafamilial variability in phenotype 
      and diverse clinical presentations that can occur in EI resulting from a single 
      mutation in KRT10.
CI  - (c) 2015 British Association of Dermatologists.
FAU - Abdul-Wahab, A
AU  - Abdul-Wahab A
AD  - St John's Institute of Dermatology, King's College London (Guy's Campus), London, 
      UK.
FAU - Takeichi, T
AU  - Takeichi T
AD  - St John's Institute of Dermatology, King's College London (Guy's Campus), London, 
      UK.
AD  - Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, 
      Japan.
FAU - Liu, L
AU  - Liu L
AD  - Viapath, St Thomas' Hospital, London, UK.
FAU - Stephens, C
AU  - Stephens C
AD  - Department of Dermatology, Poole Hospital NHS Foundation Trust, Poole, UK.
FAU - Akiyama, M
AU  - Akiyama M
AD  - Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, 
      Japan.
FAU - McGrath, J A
AU  - McGrath JA
AD  - St John's Institute of Dermatology, King's College London (Guy's Campus), London, 
      UK.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20150904
PL  - England
TA  - Clin Exp Dermatol
JT  - Clinical and experimental dermatology
JID - 7606847
RN  - 0 (KRT10 protein, human)
RN  - 147785-83-9 (Keratin-10)
SB  - IM
MH  - Adult
MH  - Female
MH  - Humans
MH  - Hyperkeratosis, Epidermolytic/*genetics
MH  - Infant
MH  - Keratin-10/*genetics
MH  - Male
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - Pedigree
EDAT- 2015/09/05 06:00
MHDA- 2017/01/07 06:00
CRDT- 2015/09/05 06:00
PHST- 2015/03/29 00:00 [accepted]
PHST- 2015/09/05 06:00 [entrez]
PHST- 2015/09/05 06:00 [pubmed]
PHST- 2017/01/07 06:00 [medline]
AID - 10.1111/ced.12751 [doi]
PST - ppublish
SO  - Clin Exp Dermatol. 2016 Apr;41(3):290-3. doi: 10.1111/ced.12751. Epub 2015 Sep 4.