PMID- 10215408
OWN - NLM
STAT- MEDLINE
DCOM- 19990419
LR  - 20180411
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 4
DP  - 1998
TI  - Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation,
      two missense mutations and an insertion in patients with homocystinuria.
      Mutations in brief no. 120. Online.
PG  - 332
AB  - RT-PCR and direct sequence analyses were used to define mutations in the
      cystathionine beta-synthase (CBS) gene in two unrelated male patients with
      vitamin B6 nonresponsive homocystinuria. Both patients were compound
      heterozygotes for CBS alleles containing point mutations. One patient had a
      maternally derived G->A transition in the splice-donor site of intron 1,
      resulting in aberrant splicing of CBS mRNA. The other allele contained a missense
      mutation resulting in the previously reported E144K mutant CBS protein. The
      second patient had a maternally derived 4 bp insertion in exon 17, predicted to
      cause a CBS peptide of altered amino acid sequence. A 494G->A transition was
      found in exon 4 of the other allele, predicting a C165Y substitution. Expression 
      of recombinant CBS protein, containing the C165Y mutation, had no detectable
      catalytic activity. Each mutation was confirmed in genomic DNA.
FAU - Gordon, R B
AU  - Gordon RB
AD  - Department of Medicine, University of Queensland, Princess Alexandra Hospital,
      Brisbane 4102, Australia. agordon@ozemail.com.au
FAU - Cox, A J
AU  - Cox AJ
FAU - Dawson, P A
AU  - Dawson PA
FAU - Emmerson, B T
AU  - Emmerson BT
FAU - Kraus, J P
AU  - Kraus JP
FAU - Dudman, N P
AU  - Dudman NP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA Transposable Elements)
RN  - EC 4.2.1.22 (Cystathionine beta-Synthase)
SB  - IM
MH  - Alternative Splicing/*genetics
MH  - Cystathionine beta-Synthase/*genetics/metabolism
MH  - DNA Mutational Analysis
MH  - DNA Transposable Elements/genetics
MH  - Homocystinuria/enzymology/*genetics
MH  - Humans
MH  - Male
MH  - Mutation/*genetics
MH  - Mutation, Missense/genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 1999/04/24 02:14
MHDA- 2000/06/22 10:00
CRDT- 1999/04/24 02:14
PHST- 1999/04/24 02:14 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/24 02:14 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU16>3.0.CO;2-P [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU15>3.0.CO;2-S [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(4):332. doi:
      10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU15>3.0.CO;2-S.