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Intern Med. 2011;50(19):2179-83. Epub 2011 Oct 4.

Two adjacent mutations on chromosome 16 discovered in a patient presenting with generalized convulsions after influenza A virus infection.

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  • 1Center for Diabetes & Endocrinology, The Tazuke Kofukai Foundation Medical Research Institute Kitano Hospital, Japan.


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.

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