【佳学基因检测】药房主任如何询问关于FKTN的疾病风险评估知识

基因检测的序列名称：

FKTN

人体基因序列变化与疾病表征数据库中的基因代码：

2218

人体基因序列数据库中国际交流名称全称

fukutin

中国数据库中基因全称：

福田

基因检测报告英文版基因简介

The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]

基因突变所影响的基因信息

该基因编码的蛋白是一种假定的跨膜蛋白，位于跨顺式-高尔基体，可能与骨骼肌中的α-营养不良糖基糖基化有关。编码的蛋白质被认为是糖基转移酶，可能在大脑发育中起作用。该基因的缺陷是福山型先天性肌营养不良症（FCMD），沃克-沃伯格综合征（WWS），肢带型肌营养不良症2M型（LGMD2M）和扩张型心肌病1X型（CMD1X）的原因。已经发现该基因的剪接的转录变体。[由RefSeq提供，2010年11月]

国际国内该碱基基因序列的其他英语文字母简称：

CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4

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9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：108320411；结束位置坐标为：108403399。该基因序列在GRCh38版本中的起始位置坐标为：105558117；结束位置坐标为：105655950。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。

佳学基因解码对该基因的功能分类：国际版

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基因解码对该基因的功能分类：中文版

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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）：

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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）：

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该基因序列变化后增加的疾病风险（国际版）：

CARDIOMYOPATHY, DILATED, 1X; Fukuyama Type Congenital Muscular Dystrophy; Hypoglycosylation of alpha-dystroglycan; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; Pyramidal tract hypoplasia; Myocardial fibrosis; Meningoencephalocele; Cerebellar cyst; Thick cerebral cortex; Atrophic retina; Hypoplastic male genitalia; Cerebellar dysplasia; Cobblestone Lissencephaly; Muscle eye brain disease; Posterior fossa cyst; Calf muscle hypertrophy; Congenital joint contractures; MUSCULAR DYSTROPHY, CONGENITAL, 1C; Irido-corneo-trabecular dysgenesis (disorder); Occipital Encephalocele; Retinal Dysplasia; Corneal diameter increased; Spinal rigidity; Congenital keratoglobus; Congenital muscular dystrophy (disorder); Excessive daytime somnolence; Walker-Warburg congenital muscular dystrophy; Skeletal muscle hypertrophy; Discordant ventriculoarterial connection; Hypoplasia of the optic nerve; Weak cry; Hydrophthalmos; Asymmetry of the posterior cranium; Flattening of cranial vault; Flattening of head; Globe of eye large; Plagiocephaly; Plagiocephaly, Nonsynostotic; Rhomboid shaped head; Congenital cerebral hernia; Hypoplasia of the brainstem; Absent auditory canals; Absent external auditory canals; Atresia of the external auditory canal; Atretic auditory canal; Gowers sign; Gowers sign present; RENAL ADYSPLASIA; Renal dysplasia; Mask-like facies; Dandy-Walker Syndrome; Profound Mental Retardation; Profound intellectual disabilities; Hypotonia, severe; Retinal Detachment; Muscle biopsy shows dystrophic changes; Congenital ocular coloboma (disorder); LEFT VENTRICULAR NONCOMPACTION 10; LEFT VENTRICULAR NONCOMPACTION 8; Pachygyria; Muscular Dystrophy; Pulmonary Stenosis; Abnormality of the voice; Anus, Imperforate; Hyperopia; Congenital small ears; Polymicrogyria; Proximal muscle weakness; Proximal neurogenic muscle weakness; Retinal Degeneration; Clouding of corneal stroma; Corneal Opacity; Lordosis; Electromyogram abnormal; Speech Disorders; Cerebellar Hypoplasia; Flexion contracture of proximal interphalangeal joint; Cleft Lip; Agenesis of corpus callosum; Cardiomyopathy, Dilated; Atrial Septal Defects; Brachycephaly; Broad cranium shape; Muscle Hypertonia; Wide skull shape; Hypoplasia of corpus callosum; Absent reflex; Absent tendon reflex; Contracture of joint; Flexion contracture; Flexion contractures of joints; Reflex, Deep Tendon, Absent; Contracture; Abnormally small eyeball; Decreased size of eyeball; Severe mental retardation (I.Q. 20-34); Microphthalmos; Pectus excavatum; Electroencephalogram abnormal; Mental impairment; Impaired cognition; Blindness, Legal; Blind Vision; Myopathy; Hydrocephalus; Delayed speech and language development; Language Delay; Speech Delay; Speech impairment; Creatine phosphokinase serum increased; Elevated creatine kinase; Myopia; Glaucoma; Decreased tendon reflex; Dilated ventricles (finding); Respiratory function loss; Gait abnormality; Neurogenic Muscular Atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Respiratory Insufficiency; Skeletal muscle atrophy; muscle degeneration; Progressive disorder; Motor delay; No development of motor milestones; Highly variable clinical phenotype; Highly variable phenotype and severity; Highly variable phenotype, even within families; Phenotypic variability; Highly variable severity; Variable expressivity; Uranostaphyloschisis; Low Vision; Visual Impairment; Muscle Weakness; Cleft Palate; Optic Atrophy; Lens Opacities; Infantile onset; Cataract; Strabismus; Acquired scoliosis; Curvature of spine; Small head; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; 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）：

心肌病扩张型1X；福山型先天性肌营养不良症； α-dystroglycan 的低糖基化；肌肉萎缩症肢带2M 型；肌营养不良症-肌营养不良症（先天性无智力低下）B 型2型；锥体束发育不全；心肌纤维化;脑膜脑膨出；小脑囊肿;大脑皮层厚；萎缩性视网膜；男性生殖器发育不全；小脑发育不良;鹅卵石无脑畸形；肌肉眼脑疾病；后颅窝囊肿；小腿肌肉肥大；先天性关节挛缩；肌肉萎缩症先天性1C；虹膜-角膜-小梁发育不全（障碍）；枕叶脑膨出；视网膜发育不良；角膜直径增加；脊柱僵硬；先天性角化球;先天性肌营养不良症（紊乱）；白天过度嗜睡； Walker-Warburg先天性肌营养不良症；骨骼肌肥大；不协调的心室动脉连接；视神经发育不全;微弱的哭声；眼积水;后颅骨不对称；颅顶扁平化；头部扁平;眼球大；斜头畸形；斜头畸形非收缩性；菱形头；先天性脑疝；脑干发育不全;没有耳道；没有外耳道；外耳道闭锁;听道闭锁；高尔斯标志； Gowers 签名礼物；肾发育不良；肾发育不良;面具般的面容；花花公子沃克综合症；严重精神发育迟滞；极度智力障碍；肌张力减退严重；视网膜脱离；肌肉活检显示营养不良性改变；先天性眼部缺损（疾病）；左心室致密化不全 12型；左心室致密化不全 2型；巨脑回;肌营养不良症;肺动脉狭窄；声音异常；肛门无孔；远视;先天性小耳朵；多小脑回；近端肌肉无力；近端神经源性肌肉无力；视网膜变性；角膜基质混浊；角膜混浊；前凸;肌电图异常；言语障碍；小脑发育不全；近端指间关节屈曲挛缩；唇裂；胼胝体发育不全；心肌病扩张型；房间隔缺损；短头畸形；宽颅骨形状；肌肉张力亢进；宽颅骨形状；胼胝体发育不全；没有反射；腱反射消失；关节挛缩；屈曲挛缩；关节屈曲挛缩；反射深肌腱缺席；挛缩;异常小的眼球；眼球变小；严重智力低下（IQ 20-34）；小眼球;漏斗胸;脑电图异常；精神障碍；认知障碍；失明合法；盲目视力；肌病;脑积水;言语和语言发育迟缓；语言延迟；语音延迟；言语障碍；血清肌酸磷酸激酶升高；肌酸激酶升高；近视;青光眼;肌腱反射减弱；扩张的心室（发现）；呼吸功能丧失；步态异常；神经源性肌肉萎缩症；神经源性肌肉萎缩尤其是下肢；呼吸功能不全；骨骼肌萎缩；肌肉退化;进行性疾病；电机延迟；没有运动里程碑的发展；高度可变的临床表型；高度可变的表型和严重程度；高度可变的表型即使在家庭内部也是如此；表型变异性；高度可变的严重性；可变表现力； Uranostaphyloschisis;低视力;视力障碍；肌肉无力;腭裂；视神经萎缩；晶状体混浊；婴儿期发病；白内障;斜视；后天性脊柱侧凸；脊柱弯曲；小头;癫痫;肌肉张力减退；癫痫发作；认知延迟；整体发育迟缓；智力和运动迟缓；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾;常染色体隐性易感性

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

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GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

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以该基因做靶点的药物（国际版）：

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针对该基因所产生的突变，可能有正确效果的药物（中文版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及时更新的人类基因序列变化与疾病表征数据库的更新内容