【万象城AWC(中国)基因检测】飞行质谱基因筛查发现CHRND有突变，严重吗？

基因检测的序列名称：

CHRND

人体基因序列变化与疾病表征数据库中的基因代码：

1144

人体基因序列数据库中国际研讨名称全称

cholinergic receptor nicotinic delta subunit

中国数据库中基因全称：

胆碱能受体烟碱δ亚基

基因检测报告英文版基因简介

The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

基因突变所影响的基因信息

肌肉的乙酰胆碱受体具有4种不同类型的5个亚基：2个α亚基，β，γ和δ亚基各1个。乙酰胆碱结合后，受体发生广泛的构象变化，影响所有亚基，并导致跨质膜的离子传导通道打开。该基因的缺陷是多发性翼状syndrome肉综合征致死型（MUPSL），先天性肌无力综合征慢通道型（SCCMS）和先天性肌无力综合征快通道型（FCCMS）的原因。已经发现该基因的几种编码不同同工型的转录物变体。[由RefSeq给予，2015年7月]

国际国内该碱基基因序列的其他英语文字母简称：

ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第2号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：233390870；结束位置坐标为：233401375。该基因序列在GRCh38版本中的起始位置坐标为：232526160；结束位置坐标为：232537907。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

万象城AWC(中国)基因解码对该基因的功能分类：国际版

Transporters/Transporter channels and pores

基因解码对该基因的功能分类：中文版

转运体/转运体通道和孔

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Plasma membraneCytosol;Nucleoplasm

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

质膜细胞质；核质

该基因序列变化后增加的疾病风险（国际版）：

MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; Abnormal cervical curvature; Aplasia of muscle; Hypoplastic heart; Myasthenic Syndrome, Congenital, Fast-Channel; Multiple pterygia; Myasthenic syndrome, congenital, postsynaptic slow-channel; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; Malignant hyperpyrexia due to anesthesia; Congenital Myasthenic Syndromes, Postsynaptic; Early severe fetal akinesia sequence; Pena-Shokeir syndrome type I; Akinesia; Neck muscle weakness; Easy fatigability; Hypoplastic finger; Short finger; Tires quickly; Increased susceptibility to fractures; Lymphangioma, Cystic; Thin rib; Fused vertebrae; Spinal fusion; Vertebral body fusion; Paralysed; Congenital hypoplasia of lung; Distortion of face; Dysmorphic facies; Funny looking face; facial deformity; Depressed nasal ridge; Generalized muscle weakness; Bell Palsy; Congenital anomaly of face; Facial muscle weakness of muscles innervated by CN VII; Facial Paresis; Neonatal Hypotonia; Edema; Polyhydramnios; Contracture of joint; Flexion contracture; Flexion contractures of joints; Contracture; Ophthalmoplegia; Feeding difficulties; Respiratory function loss; Deglutition Disorders; Prenatal onset; Respiratory Insufficiency; Progressive disorder; Uranostaphyloschisis; Infant, Small for Gestational Age; Intrauterine retardation; Congenital Epicanthus; Low set ears; Fetal Growth Retardation; Byzanthine arch palate; Cleft Palate; Blepharoptosis; Infantile onset; Orbital separation excessive; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Muscle hypotonia; Autosomal recessive predisposition

如果该基因突变后，风险可能增加的疾病类型（中文版）：

肌无力综合症先天性3A慢通道；肌无力综合症先天性3B快速通道；肌无力综合症先天性3C与乙酰胆碱受体缺乏症相关；颈椎曲度异常；肌肉发育不全；心脏发育不全；肌无力综合症先天性快速通道；多发性翼状胬肉；肌无力综合征先天性突触后慢通道；多发性翼状胬肉综合征致死型；麻醉引起的恶性高热；先天性肌无力综合征突触后；早期严重胎儿运动不能序列； Pena-Shokeir 综合征 I 型；运动不能；颈部肌肉无力；容易疲劳；手指发育不全；手指短；轮胎很快;骨折易感性增加；淋巴管瘤囊性；细肋;融合椎骨;脊柱融合；椎体融合；瘫痪；先天性肺发育不全；面部扭曲；畸形面容；滑稽的脸；面部畸形；鼻梁凹陷；全身性肌肉无力；贝尔麻痹；面部先天性异常； CN VII 支配的肌肉的面部肌肉无力；面部麻痹；新生儿肌张力减退；浮肿;羊水过多;关节挛缩；屈曲挛缩；关节屈曲挛缩；挛缩;眼肌麻痹;进食困难；呼吸功能丧失；吞咽障碍；产前发作；呼吸功能不全；进行性疾病； Uranostaphyloschisis;婴儿小于胎龄儿；宫内发育迟缓;先天性内眦赘皮；低位耳朵；胎儿生长迟缓；拜占庭拱形上颚；腭裂；上睑下垂；婴儿期发病；轨道分离过度；发育不全的下颌骨髁；下颌发育不全;小颌畸形；肌肉张力减退；常染色体隐性易感性