Heterogeneity of the molecular biology of methemoglobinemia: a study of eight consecutive patients.
Congenital methemoglobinemia can be caused by mutations involving five different genes. We studied the etiology and molecular biology of eight consecutive patients with methemoglobinemia. Four had b5R mutations; two were novel. A novel intronic mutation caused markedly reduced mRNA resulting in type II methemoglobinemia. Three patients had acquired methemoglobinemia without any b5R mutations.
Maran
Jey
J
Guan
Yongli
Y
Ou
Ching-Nan
CN
Prchal
Josef T
JT
D019943:Amino Acid Substitution; D042966:Cytochrome-B(5) Reductase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008012:Lidocaine / Q000009:adverse effects; D008297:Male; D008708:Methemoglobinemia / Q000139:chemically induced / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
D012333:RNA, Messenger; D008012:Lidocaine; D042966:Cytochrome-B(5) Reductase