PMID- 10338091
OWN - NLM
STAT- MEDLINE
DCOM- 19990811
LR  - 20121115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 5
DP  - 1999
TI  - Two novel mutations of the FMO3 gene in a proband with trimethylaminuria.
PG  - 376-9
AB  - The mammalian flavin-containing monooxygenases catalyze the NADPH-dependent
      N-oxygenation of nucleophilic nitrogen-, sulfur-, and phosphorus-containing
      chemicals, drugs, and xenobiotics, including trimethylamine. The FMO3 gene
      encodes the dominant catalytically active isoform present in human liver. We have
      identified two missense mutations in the coding region of the gene in a proband
      with trimethylaminuria (TMA): M66I and R492W. Whereas two mutations (P153L,
      E305X) accounted for TMA in our eight unrelated previously documented Australian 
      families of British origin, the present report is the first evidence of compound 
      heterozygosity for two rare mutations in a proband with this disorder. This
      suggests that other rarer alleles, also causing TMA, will be found in the same
      populations.
FAU - Akerman, B R
AU  - Akerman BR
AD  - C.R. Scriver Biochemical Genetics Unit, Montreal Children's Hospital, Quebec,
      Canada.
FAU - Forrest, S
AU  - Forrest S
FAU - Chow, L
AU  - Chow L
FAU - Youil, R
AU  - Youil R
FAU - Knight, M
AU  - Knight M
FAU - Treacy, E P
AU  - Treacy EP
LA  - eng
SI  - GENBANK/U39960
SI  - GENBANK/U39961
SI  - GENBANK/U39962
SI  - GENBANK/U39963
SI  - GENBANK/U39964
SI  - GENBANK/U39965
SI  - GENBANK/U39966
SI  - GENBANK/U39967
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA Primers)
RN  - 0 (Methylamines)
RN  - EC 1.13.- (Oxygenases)
RN  - EC 1.14.13.8 (dimethylaniline monooxygenase (N-oxide forming))
RN  - LHH7G8O305 (trimethylamine)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 1
MH  - DNA Mutational Analysis
MH  - DNA Primers
MH  - Humans
MH  - Male
MH  - Methylamines/*urine
MH  - *Mutation
MH  - Oxygenases/*genetics
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/05/25 06:00
MHDA- 2000/06/22 10:00
CRDT- 1999/05/25 06:00
PHST- 1999/05/25 06:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/05/25 06:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:5<376::AID-HUMU5>3.0.CO;2-A [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:5<376::AID-HUMU5>3.0.CO;2-A [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(5):376-9. doi:
      10.1002/(SICI)1098-1004(1999)13:5<376::AID-HUMU5>3.0.CO;2-A.