PMID- 10340975
OWN - NLM
STAT- MEDLINE
DCOM- 20000107
LR  - 20190501
IS  - 0007-1161 (Print)
IS  - 0007-1161 (Linking)
VI  - 83
IP  - 6
DP  - 1999 Jun
TI  - Ocular ochronosis in alkaptonuria patients carrying mutations in the
      homogentisate 1,2-dioxygenase gene.
PG  - 680-3
AB  - AIMS: To assess the involvement of the recently identified human homogentisate
      1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with
      ochronosis of the conjunctiva, sclera, and cornea. METHODS: A mutation screen of 
      the entire coding region of the HGO gene was performed using single stranded
      conformational analysis after polymerase chain reaction with oligonucleotide
      primers flanking all 14 exons of the HGO gene. Fragments showing aberrant
      mobility were directly sequenced. RESULTS: Two homozygous missense mutations,
      L25P and M368V, were identified, each of which leads to the replacement of a
      highly conserved amino acid in the HGO protein. CONCLUSIONS: The authors describe
      a novel mutation, L25P, in the German population and bring to 18 the total number
      of known HGO mutations.
FAU - Felbor, U
AU  - Felbor U
AD  - Augenklinik, Universitat Wurzburg, Wurzburg, Germany.
FAU - Mutsch, Y
AU  - Mutsch Y
FAU - Grehn, F
AU  - Grehn F
FAU - Muller, C R
AU  - Muller CR
FAU - Kress, W
AU  - Kress W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Ophthalmol
JT  - The British journal of ophthalmology
JID - 0421041
RN  - EC 1.13.- (Oxygenases)
RN  - EC 1.13.11.- (Dioxygenases)
RN  - EC 1.13.11.5 (Homogentisate 1,2-Dioxygenase)
SB  - IM
MH  - Aged
MH  - Amino Acid Substitution/genetics
MH  - Conjunctival Diseases/*genetics
MH  - Corneal Diseases/*genetics
MH  - *Dioxygenases
MH  - Exons/genetics
MH  - Female
MH  - Homogentisate 1,2-Dioxygenase
MH  - Humans
MH  - Mutation, Missense/*genetics
MH  - Ochronosis/*genetics
MH  - Oxygenases/*genetics
MH  - Scleral Diseases/*genetics
PMC - PMC1723057
EDAT- 1999/05/26 00:00
MHDA- 1999/05/26 00:01
CRDT- 1999/05/26 00:00
PHST- 1999/05/26 00:00 [pubmed]
PHST- 1999/05/26 00:01 [medline]
PHST- 1999/05/26 00:00 [entrez]
AID - 10.1136/bjo.83.6.680 [doi]
PST - ppublish
SO  - Br J Ophthalmol. 1999 Jun;83(6):680-3. doi: 10.1136/bjo.83.6.680.