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d-a posted an update
3 years ago (edited)
Seven Novel Mutations in the Methylenetetrahydrofolate Reductase Gene and Genotype/Phenotype Correlatiops in Severe Methylenetetrahydrofolate Reductase Deficiency
We report here the characterization of seven novel mutations in this gene: six missense mutations and a 5′ splice-site defect that activates a cryptic splice site
in the coding sequence. We also present a preliminary analysis of the relationship between genotype and phenotype for all nine mutations identified thus far in this gene. A nonsense mutation and two missense mutations (proline to leucine and threonine to methionine) in the homozygous state are associated with extremely low activity (0%-3%) and onset of symptoms within the 1st year of age. Other missense mutations (arginine to cysteine and arginine to glutamine) are associated with higher enzyme activity and later onset of symptoms.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801446/pdf/ajhg00031-0041.pdf
