PMID- 10462600
OWN - NLM
STAT- Publisher
LR  - 20191120
IS  - 1084-8592 (Print)
IS  - 1084-8592 (Linking)
VI  - 2
IP  - 2
DP  - 1997 Jun
TI  - Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric
      Patients.
PG  - 129-133
AB  - Background: The continued identfication of new mutations in the cystathionine
      beta-synthase (CBS) gene is important in correlating the genotype/phenotype of
      patients with classic homocystinuria and in assessing whether heterozygosity of
      CBS deficiency is an important cause of mild hyperhomocysteinemia, an independent
      risk factor for occlusive vascular diseases. Methods and Results: Single-strand
      polymorphism and direct nucleotide sequencing were used to detect two novel
      mutations in the CBS gene of three homocystinuric patients from two unrelated
      families. The first mutation, a G-to-A transistion at nucleotide 1316 in exon 12,
      results in an amino acid substitution of arginine by glutamine at codon 439. The 
      second mutation is a G-to-A transition at nucleotide 1109 in exon 10 and results 
      in an amino acid substitution of cysteine by tyrosine at codon 370. All three
      patients are apparently compound heterozygotes, with one of the two novel
      mutations on one allele and the T(833)C mutation on the other allele.
      Conclusions: The absence of the G(1316)A and G(1109)A in 216 control alleles
      demonstrates that these two novel mutations do not represent common
      polymorphisms, but rather are responsible for the defective CBS enzyme activities
      encoded by one of the two alleles of the CBS gene in each of the two families.
FAU - Tsai
AU  - Tsai MY
AD  - Department of Laboratory Medicine and Pathology, University of Minnesota Hospital
      and Clinic, Minneapolis, Minnesota, USA
FAU - Wong
AU  - Wong PW
FAU - Garg
AU  - Garg U
FAU - Hanson
AU  - Hanson NQ
FAU - Schwichtenberg
AU  - Schwichtenberg K
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Mol Diagn
JT  - Molecular diagnosis : a journal devoted to the understanding of human disease
      through the clinical application of molecular biology
JID - 9614965
EDAT- 1997/06/01 00:00
MHDA- 1999/08/27 00:00
CRDT- 1997/06/01 00:00
PHST- 1997/06/01 00:00 [pubmed]
PHST- 1999/08/27 00:00 [medline]
PHST- 1997/06/01 00:00 [entrez]
AID - 10.1054/MODI00200129 [doi]
AID - S1084-8592(97)80019-7 [pii]
PST - ppublish
SO  - Mol Diagn. 1997 Jun;2(2):129-133. doi: 10.1054/MODI00200129.