title: Identification and characterization of CYP2D6*56B, an allele associated with the poor metabolizer phenotype.
abstract: 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.
authors: Section of Developmental Pharmacology and Experimental Therapeutics, Children's Mercy Hospital and Clinics, Kansas City, Missouri, USA. agaedigk@cmh.edu
authors: A
authors: A
authors: Gaedigk
authors: J D
authors: JD
authors: Eklund
authors: R E
authors: RE
authors: Pearce
authors: J S
authors: JS
authors: Leeder
authors: S W
authors: SW
authors: Alander
authors: M S
authors: MS
authors: Phillips
authors: L D
authors: LD
authors: Bradford
authors: M J
authors: MJ
authors: Kennedy
mesh_terms: 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
chemical_list: D003915:Dextromethorphan; D019389:Cytochrome P-450 CYP2D6