A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria

Mutations of the flavin-containing monooxygenase type 3 gene (FMO3) that en code the major functional form present in adult human liver, have been show n to cause trimethylaminuria, We now report a novel homozygous deletion of exons 1 and 2 in an Australian of Greek ancestry with TMAuria, the first re port of a deletion causative of trimethylaminuria. The deletion occurs 328 bp upstream from exon 1, The 3'-end of the deletion occurs in intron 2, 100 13 base pairs downstream from the end of exon 2, The deletion is 12226 bp l ong. For the proband homozygous for the human FMO3 gene deletion, it is pre dicted that in addition to loss of monooxygenase function for human FMO3 su bstrates, such as TR IA and other amines, the proband will exhibit decrease d tolerance of biogenic amines, both medicinal and those found in foods, Ph armacogenetics 11:169-174 (C) 2001 Lippincott Williams & Wilkins.