PMID- 10612503
OWN - NLM
STAT- MEDLINE
DCOM- 19991228
LR  - 20190627
IS  - 0002-9394 (Print)
IS  - 0002-9394 (Linking)
VI  - 128
IP  - 6
DP  - 1999 Dec
TI  - A novel mutation in the helix termination motif of keratin K12 in a US family
      with Meesmann corneal dystrophy.
PG  - 687-91
AB  - PURPOSE: Meesmann corneal dystrophy is an autosomal dominant disorder
      characterized by fragility of the anterior corneal epithelium. We have previously
      demonstrated that this disease can be caused by mutations in the genes encoding
      keratins K3 or K12, the major intermediate filament proteins expressed in corneal
      epithelial cells. Here, we have carried out mutation analysis in a United States 
      kindred presenting with typical features of Meesmann corneal dystrophy. METHODS: 
      Exons 1 and 6 of the K12 gene (KRT12) were polymerase chain reaction amplified
      from the proband's and control DNA and subjected to direct automated sequencing. 
      RESULTS: A heterozygous missense mutation 1300A-->G was detected in exon 6 of
      KRT12, predicting amino acid substitution 1426V in the helix termination motif of
      the K12 polypeptide. The mutation was confirmed in the proband and excluded from 
      50 normal individuals by restriction enzyme analysis of polymerase chain reaction
      products. CONCLUSION: We report a novel mutation in a critical molecular overlap 
      region of K12 in a United States family with Meesmann corneal dystrophy. The
      results confirm that mutations in the corneal keratins (K3 or K12) can underlie
      Meesmann corneal dystrophy.
FAU - Coleman, C M
AU  - Coleman CM
AD  - Department of Dermatology and Cutaneous Biology, Jefferson Medical College,
      Philadelphia, Pennsylvania, USA.
FAU - Hannush, S
AU  - Hannush S
FAU - Covello, S P
AU  - Covello SP
FAU - Smith, F J
AU  - Smith FJ
FAU - Uitto, J
AU  - Uitto J
FAU - McLean, W H
AU  - McLean WH
LA  - eng
GR  - P01-AR38923/AR/NIAMS NIH HHS/United States
GR  - Wellcome Trust/United Kingdom
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  - United States
TA  - Am J Ophthalmol
JT  - American journal of ophthalmology
JID - 0370500
RN  - 0 (DNA Primers)
RN  - 68238-35-7 (Keratins)
SB  - IM
MH  - Adult
MH  - Corneal Dystrophies, Hereditary/*genetics/pathology
MH  - DNA Mutational Analysis
MH  - DNA Primers/chemistry
MH  - Family
MH  - Humans
MH  - Keratins/*genetics
MH  - Male
MH  - *Mutation, Missense
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - *Terminator Regions, Genetic
MH  - United States
EDAT- 1999/12/28 00:00
MHDA- 1999/12/28 00:01
CRDT- 1999/12/28 00:00
PHST- 1999/12/28 00:00 [pubmed]
PHST- 1999/12/28 00:01 [medline]
PHST- 1999/12/28 00:00 [entrez]
AID - S0002939499003177 [pii]
AID - 10.1016/s0002-9394(99)00317-7 [doi]
PST - ppublish
SO  - Am J Ophthalmol. 1999 Dec;128(6):687-91. doi: 10.1016/s0002-9394(99)00317-7.