1A-03Back
常染色体優性遺伝性運動および感覚神経障害に関連するIQGAP3のイントロン変異の機能分析
*範 駱鳴[1], 孫 崟瑞[1], 森川 拓弥[1], 藤岡 竜太[2], 三浦 史郎[3], 柴田 弘紀[1]
[1]九大・生医研・ゲノミクス [2]別大短・食品栄養 [3]愛媛大・医・脳神経内・老年医

---

We have reported an intronic variant (IQGAP3_int27_+6) associated with a clinically novel type of dominant motor and sensory neuropathy (dMSN). We examined its effects on splicing using a minigene construct containing the region of the variant. While only normal spliced products have been observed in cells carrying the normal-allele construct, abnormally spliced transcripts missing the last 16-bp of exon 27 and retaining 49-bp and 19-bp intronic sequences were observed in cells carrying the variant-allele construct. This result indicates that abnormal splicing of IQGAP3 is involved in the pathogenesis of dMSN.
keywords: neuropathy, splicing, intronic variant

---

Functional analysis of an intronic variant of IQGAP3 associated with autosomal dominant hereditary motor and sensory neuropathy
*Luoming Fan [1], Yinrui Sun [1], Takuya Morikawa [1], Ryuta Fujioka [2], Shiroh Miura [3], Hiroki Shibata [1]
[1] Div. Genomics, Med. Inst. Bioreg., Kyushu Univ. [2] Food Nutr. Beppu Jr. Univ. [3] Dept. Neurol. Geriatr. Med., Ehime Univ., Grad. Sch. Med.