[3P-0554] Noncoding variant in IQGAP3 associated with autosomal dominant motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough (HMSNPC).

〇Tomofumi Shimojo¹, Shiroh Miura^1,2,3, Kengo Kosaka¹, EiJi Matsuura⁴, Kazuhito Noda⁵, Ryuta Fujioka⁶, Shin-Ichiro Mori^3,7, Fujio Umehara⁸, Toru Iwaki⁷, Ken Yamamoto⁹, Hirotomo Saitsu¹⁰, Hiroki Shibata¹ (1.Division of Genomics, MIB, Univ of Kyushu, 2.Dept of Medicine, Univ of Ehime, 3.Division of Neurology, Dept of Medicine, Univ of Kurume, 4.Dept of Neurology, Univ of Kagoshima, 5.Nodakousei Clinic, 6.Dept of Food and Nutrition, Univ of Beppu Junior College , 7.Dept pf Neuropathology, Univ of Kyushu, 8.Dept of Neurology, Nanpuh Hospital, 9.Dept of Medical Chemistry, Univ of Kurume, 10.Dept of Biochemistry, Univ of Hamamatsu School of Medicine)

Hereditary neuropathy, Exome sequencing, Whole genome sequencing, Immunohistochemical analysis, RNA sequencing