Abstract:
:CYP2D6*84 was first described in a Black South African subject, however, its function remains unknown. Astrolabe, a probabilistic scoring tool developed in our laboratory to call genotypes from whole genome sequence, identified CYP2D6*84 in a trio. The father presented with intermediate metabolism when challenged with the CYP2D6 probe drug dextromethorphan (DM/dextrorphan [DX] = 0.0839). Since his second allele, CYP2D6*12, is nonfunctional, the observed activity is derived by CYP2D6*84. This finding suggests that the allele's hallmark P267H causes decreased activity toward DM and that this allele should receive a value of 0.5 for Activity Score calculations. The mother's DM/DX of 0.0543 was consistent with the decreased activity classification of CYP2D6*29. The child, a critically ill neonate, was not phenotyped, but predicted to be a normal metabolizer.
journal_name
Pharmacogenomicsjournal_title
Pharmacogenomicsauthors
Gaedigk A,Twist GP,Farrow EG,Lowry JA,Soden SE,Miller NAdoi
10.2217/pgs-2016-0192subject
Has Abstractpub_date
2017-04-01 00:00:00pages
427-431issue
5eissn
1462-2416issn
1744-8042journal_volume
18pub_type
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