Identification and characterization of CYP2D6*56B, an allele associated with the poor metabolizer phenotype.
A 5-year-old African-American girl presented with a CYP2D6*4xN/*10 genotype that was discordant with her poor metabolizer phenotype determined with the probe drug dextromethorphan. Both phenotype and genotype were confirmed in repeat assessments, suggesting that the CYP2D6*10 allele carried a novel debilitating sequence variation(s). The rationale for this study was to resolve the discordance and to describe the novel non-functional allelic variant of CYP2D6 and its frequency in populations of different ethnic backgrounds.
Gaedigk
A
A
Section of Developmental Pharmacology and Experimental Therapeutics, Children's Mercy Hospital and Clinics, Kansas City, Missouri, USA. agaedigk@cmh.edu
Eklund
J D
JD
Pearce
R E
RE
Leeder
J S
JS
Alander
S W
SW
Phillips
M S
MS
Bradford
L D
LD
Kennedy
M J
MJ
D001741:Black or African American; D002675:Child, Preschool; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics* / Q000378:metabolism; D003915:Dextromethorphan / Q000493:pharmacokinetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype
D003915:Dextromethorphan; D019389:Cytochrome P-450 CYP2D6