PMID- 10232403
OWN - NLM
STAT- MEDLINE
DCOM- 19990622
LR  - 20191103
IS  - 0906-6705 (Print)
IS  - 0906-6705 (Linking)
VI  - 8
IP  - 2
DP  - 1999 Apr
TI  - An asparagine to threonine substitution in the 1A domain of keratin 1: a novel
      mutation that causes epidermolytic hyperkeratosis.
PG  - 124-7
AB  - Epidermolytic hyperkeratosis (EHK) is a congenital, autosomal dominant disorder
      of cornification characterized by hyperkeratosis and blister formation. The
      clinical manifestations are heterogeneous, with respect to the extent of body
      surface involvement, palmar and plantar hyperkeratosis and the presence of
      erythroderma. Point mutations in the genes encoding the suprabasal-specific
      keratins, keratins 1 and 10 have been identified in EHK patients. The
      inappropriate amino acid substitutions cause a collapse of the keratin filament
      network, resulting in cytolysis of the involved keratinocytes. We report a severe
      case of EHK with a single base pair mutation that causes a threonine for
      asparagine substitution in residue 8 (N8T) of the 1A region of the keratin 1
      protein. This is the region involved in molecular overlaps between neighboring
      keratin heterodimers. These findings suggest that even conservative amino acid
      substitutions in overlap regions can cause tonofilament clumping.
FAU - Arin, M J
AU  - Arin MJ
AD  - Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030, USA.
FAU - Longley, M A
AU  - Longley MA
FAU - Kuster, W
AU  - Kuster W
FAU - Huber, M
AU  - Huber M
FAU - Hohl, D
AU  - Hohl D
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  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Denmark
TA  - Exp Dermatol
JT  - Experimental dermatology
JID - 9301549
RN  - 2ZD004190S (Threonine)
RN  - 68238-35-7 (Keratins)
RN  - 7006-34-0 (Asparagine)
SB  - IM
MH  - Amino Acid Sequence
MH  - *Amino Acid Substitution
MH  - *Asparagine
MH  - Base Sequence
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Hyperkeratosis, Epidermolytic/*genetics
MH  - Infant, Newborn
MH  - Keratins/chemistry/*genetics
MH  - Male
MH  - Pedigree
MH  - *Point Mutation
MH  - *Threonine
EDAT- 1999/05/08 00:00
MHDA- 1999/05/08 00:01
CRDT- 1999/05/08 00:00
PHST- 1999/05/08 00:00 [pubmed]
PHST- 1999/05/08 00:01 [medline]
PHST- 1999/05/08 00:00 [entrez]
AID - 10.1111/j.1600-0625.1999.tb00359.x [doi]
PST - ppublish
SO  - Exp Dermatol. 1999 Apr;8(2):124-7. doi: 10.1111/j.1600-0625.1999.tb00359.x.