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• W1539100167 abstract "Aims To identify the molecular basis for a low CYP1A2 metabolic status, as determined by a caffeine phenotyping test, in a 71‐year‐old, nonsmoking, Caucasian woman who presented with very high clozapine concentrations despite being administered a standard dose of the drug. Methods The nucleotide sequence of the 7 exons, exon‐intron boundaries and 5′‐flanking region of the CYP1A2 gene was analysed by direct sequencing. Results Only one heterozygous point mutation was identified in the donor splice site of intron 6 (3534 G > A) of CYP1A2 . This mutation could cause abnormal RNA splicing and therefore lead to a truncated nonfunctional enzyme. No other carrier of this mutation was identified in a population of 100 unrelated healthy Caucasians. Conclusions This is the first report of a splice‐site mutation affecting the CYP1A2 gene. This polymorphism is a likely explanation for the low CYP1A2 activity associated with high clozapine concentrations in this patient." @default.
• W1539100167 created "2016-06-24" @default.
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• W1539100167 date "2003-08-14" @default.
• W1539100167 modified "2023-10-14" @default.
• W1539100167 title "Identification of a novel splice-site mutation in the CYP1A2 gene" @default.
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• W1539100167 doi "https://doi.org/10.1046/j.1365-2125.2003.01858.x" @default.
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