[3P-0369] A homozygous variant of NT5E affects Japanese patients with calcification of joints and arteries via loss of translation.

○Arisa Igarashi¹, Nana Kobayashi¹, Yukimi Abe¹, Makiko Omata¹, Kazuhito Sato¹, Shinsuke Kikuchi², Tetsuro Uchida³, Tsunehiro Shintani⁴, Kumiko Yanagi¹, Ryuji Higashita⁵, Atsushi Yamashita³, Ai Ishizawa³, Mitsuaki Sadahiro³, Nobuyoshi Azuma², Yoichi Matsubara⁷, Yoshio Makita⁶, Tadashi Kaname¹ (1.Dept. of Genome Med., NCCHD., 2.Dept. of Vascular Surgery, Univ. of Asahikawa Med., 3.Dept. of Surgery 2., Univ. of Yamagata, 4.Dept. of Vascular Surgery, Shizuoka Red Cross Hospital, 5.Dept. of Cardiovascular surgery, , 6.Education center, Univ. of Asahikawa Med., 7.Res. Inst., NCCHD)

NT5E, CD73, whole exome sequencing analyses, CALJA