title: Two adjacent mutations on chromosome 16 discovered in a patient presenting with generalized convulsions after influenza A virus infection.
abstract: A 49-year-old otherwise healthy man was admitted to our hospital because of repeated generalized convulsions after influenza A virus infection. His family history was notable for consanguinity of parents. Initial laboratory tests revealed metabolic alkalosis with hypomagnesemia, as well as an elevated high density lipoprotein cholesterol level. He was diagnosed with Gitelman's syndrome and cholesteryl ester transfer protein deficiency by identifying homozygous mutations of causative genes, SLC12A3 and CETP, respectively. These two genes are located in the vicinity on chromosome 16, suggesting the possibility of autozygosity. This is the first case report highlighting the co-existence of these genetic disorders.
authors.affiliation: Center for Diabetes & Endocrinology, The Tazuke Kofukai Foundation Medical Research Institute Kitano Hospital, Japan. yo-iwasaki@kitano-hp.or.jp
authors.forename: Yorihiro
authors.initials: Y
authors.lastname: Iwasaki
authors.forename: Makio
authors.initials: M
authors.lastname: Takahashi
authors.forename: Kandai
authors.initials: K
authors.lastname: Nozu
authors.forename: Sadayuki
authors.initials: S
authors.lastname: Matsumoto
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Koshiyama
mesh_terms: D053480:Cholesterol Ester Transfer Proteins / Q000172:deficiency* / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D053579:Gitelman Syndrome / Q000097:blood / Q000150:complications* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009980:Influenza A virus; D007251:Influenza, Human / Q000150:complications*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011955:Receptors, Drug / Q000235:genetics; D012640:Seizures / Q000209:etiology* / Q000235:genetics*; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics
chemical_list: C506642:CETP protein, human; D053480:Cholesterol Ester Transfer Proteins; D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters