Forrest S M, Knight M, Akerman B R, Cashman J R, Treacy E P
Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Pharmacogenetics. 2001 Mar;11(2):169-74. doi: 10.1097/00008571-200103000-00007.
Mutations of the flavin-containing monooxygenase type 3 gene (FMO3) that encode the major functional form present in adult human liver, have been shown 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 report 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, 10013 base pairs downstream from the end of exon 2. The deletion is 12226 bp long. For the proband homozygous for the human FMO3 gene deletion, it is predicted that in addition to loss of monooxygenase function for human FMO3 substrates, such as TMA and other amines, the proband will exhibit decreased tolerance of biogenic amines, both medicinal and those found in foods.
编码成人肝脏中主要功能形式的含黄素单加氧酶3型基因（FMO3）的突变已被证明会导致三甲胺尿症。我们现在报告在一名有希腊血统的澳大利亚三甲胺尿症患者中发现了外显子1和2的一种新型纯合缺失，这是首例导致三甲胺尿症的缺失报告。该缺失发生在外显子1上游328 bp处。缺失的3'端位于内含子2中，在外显子2末端下游10013个碱基对处。该缺失长度为12226 bp。对于该人类FMO3基因缺失的纯合先证者，预计除了丧失对人类FMO3底物（如三甲胺和其他胺类）的单加氧酶功能外，先证者对生物胺（包括药用生物胺和食物中发现的生物胺）的耐受性也会降低。
