@article{oai:kanazawa-u.repo.nii.ac.jp:00014468,
 author = {多田, 隼人 and 川尻, 剛照 and 今野, 哲雄 and 野原, 淳 and 稲津, 明広 and 馬渕, 宏 and 山岸, 正和 and 林, 研至 and Tada, Hayato and Kawashiri, Masa-aki and Okada, Hirofumi and Endo, Saori and Toyoshima, Yuka and Konno, Tetsuo and Nohara, Atsushi and Inazu, Akihiro and Takao, Akira and Mabuchi, Hiroshi and Yamagishi, Masakazu and Hayashi, Kenshi},
 issue = {7},
 journal = {Journal of Atherosclerosis and Thrombosis},
 month = {Jul},
 note = {Whole exome sequencing (WES) technologies have accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. We encountered a 13-year-old Japanese female initially diagnosed with familial hypercholesterolemia on the basis of clinical manifestations of severe hypercholesterolemia (initial LDL cholesterol=609 mg/dl at the age of one) and systemic intertriginous xanthomas with histories of recurrent self-limiting episodes of fever and arthritis. Both her phenotypes seemed to co-segregate in a recessive manner. We performed WES on this patient, who was considered a proband. Among 206,430 variants found in this individual, we found 18,220 nonsense, missense, or splice site variants, of which 3,087 were rare (minor allele frequency ≤ 0.01 or not reported) in 1000 Genome (Asian population). Filtering by assuming a recessive pattern of inheritance with the use of an in silico annotation prediction tool, we successfully narrowed down the candidates to the compound heterozygous mutations in the ABCG5 gene (c.1256G＞A or p.Arg419His/c.1763-1G＞A [splice acceptor site]) and to the double-compound heterozygous mutations in the MEFV gene (c.329T＞C/C or p.Leu110Pro/c.442G＞C/C or p.Glu148Val). The patient was genetically diagnosed with sitosterolemia and familial Mediterranean fever using WES for the first time. Such a comprehensive approach is useful for identifying causative mutations for multiple unrelated inheritable diseases., 出版者照会後に全文公開},
 pages = {884--890},
 title = {A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.},
 volume = {23},
 year = {2016}
}