Clinical diversity caused by novel IGHMBP2 variants
Clinical diversity caused by novel IGHMBP2 variants
复制标题
DOI：
10.1038/jhg.2017.15
复制
发表时间：
2017-02
影响因子：
3.5
通讯作者：
Junhui Yuan;A. Hashiguchi;A. Yoshimura;H. Yaguchi;Koji Tsuzaki;Azusa Ikeda;K. Wada-isoe;M. Ando;Tomonori Nakamura;Y. Higuchi;Y. Hiramatsu;Y. Okamoto;H. Takashima
中科院分区：
文献类型：
--
作者：
Junhui Yuan;A. Hashiguchi;A. Yoshimura;H. Yaguchi;Koji Tsuzaki;Azusa Ikeda;K. Wada-isoe;M. Ando;Tomonori Nakamura;Y. Higuchi;Y. Hiramatsu;Y. Okamoto;H. Takashima
免疫球蛋白解旋酶μ结合蛋白2(IGHMBP2)基因与Charcot-Marie-Tooth病2S和脊髓性肌萎缩症合并呼吸窘迫1型有关。自2014年6月至2015年12月，我们收集了408例因临床表现和电生理检查而怀疑为CMT病或其他遗传性周围神经病(IPN)的病例，均转至本实验室进行遗传分析。使用Ion AmpliSeq定制面板进行突变筛查，该面板包含72个IPN致病或候选基因。我们在四名患者中发现了IGHMBP2的新纯合子或复合杂合子变异体。3例表现为儿童期以轴索为主的感觉运动性多发性神经病，1例诊断为SMARD1型，出生后4个月表现为出生体重低、哭声弱、自主活动减少和呼吸窘迫。本文报道了日本首次报道的2S型CMT，并指出隐性IGHMBP2变异约占我们队列中轴突CMT的1.6%。
Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot–Marie–Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited peripheral neuropathies (IPNs) on the basis of clinical manifestations and electrophysiological studies. Mutation screening was performed using Ion AmpliSeq Custom Panels, which comprise 72 disease-causing or candidate genes of IPNs. We identified novel homozygous or compound heterozygous variants of IGHMBP2 in four patients. Three patients presented with childhood-onset axonal predominant sensorimotor polyneuropathies, whereas the other case was diagnosed with SMARD1, manifesting as low birth weight, weak cry, reduced spontaneous movement and developed respiratory distress 4 months after birth. We present the original report of CMT type 2S in Japan, and illustrate that recessive IGHMBP2 variants account for~ 1.6% of axonal CMT in our cohort.