【佳學基因檢測】藥房主任如何詢問關(guān)于FKTN的疾病 風險評估知識

基因檢測的序列名稱：

FKTN

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2218

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

fukutin

中國數(shù)據(jù)庫中基因全稱：

福田

基因檢測報告英文版基因簡介

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]

基因突變所影響的基因信息

該基因編碼的蛋白是一種假定的跨膜蛋白，位于跨順式-高爾基體，可能與骨骼肌中的α-營養(yǎng)不良糖基糖基化有關(guān)。編碼的蛋白質(zhì)被認為是糖基轉(zhuǎn)移酶，可能在大腦發(fā)育中起作用。該基因的缺陷是福山型先天性肌營養(yǎng)不良癥（FCMD），沃克-沃伯格綜合征（WWS），肢帶型肌營養(yǎng)不良癥2M型（LGMD2M）和擴張型心肌病1X型（CMD1X）的原因。已經(jīng)發(fā)現(xiàn)該基因的剪接的轉(zhuǎn)錄變體。[由RefSeq提供，2010年11月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

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

基因解碼對該基因序列在細胞核中的染色體所給予的編號：

該基因序列位于人類第9號染色體上。

基因解碼對基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標為：108320411；結(jié)束位置坐標為：108403399。該基因序列在GRCh38版本中的起始位置坐標為：105558117；結(jié)束位置坐標為：105655950。正確的基因信息定位是基因檢測和對檢測結(jié)果進行正確解讀的關(guān)鍵。

佳學基因解碼對該基因的功能分類：國際版

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基因解碼對該基因的功能分類：中文版

結(jié)構(gòu)與功能基因解碼所揭示的該基因在細胞內(nèi)發(fā)揮作用的場所（國際版）：

結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細胞內(nèi)位置（中文版）：

該基因序列變化后增加的疾病風險（國際版）：

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

如果該基因突變后，風險可能增加的疾病類型（中文版）：

心肌病擴張型1X；福山型先天性肌營養(yǎng)不良癥； α-dystroglycan 的低糖基化；肌肉萎縮癥肢帶2M 型；肌營養(yǎng)不良癥-肌營養(yǎng)不良癥（先天性無智力低下）B 型2型；錐體束發(fā)育不全；心肌纖維化;腦膜腦膨出；小腦囊腫;大腦皮層厚；萎縮性視網(wǎng)膜；男性生殖器發(fā)育不全；小腦發(fā)育不良;鵝卵石無腦畸形；肌肉眼腦疾病；后顱窩囊腫；小腿肌肉肥大；先天性關(guān)節(jié)攣縮；肌肉萎縮癥先天性1C；虹膜-角膜-小梁發(fā)育不全（障礙）；枕葉腦膨出；視網(wǎng)膜發(fā)育不良；角膜直徑增加；脊柱僵硬；先天性角化球;先天性肌營養(yǎng)不良癥（紊亂）；白天過度嗜睡； Walker-Warburg先天性肌營養(yǎng)不良癥；骨骼肌肥大；不協(xié)調(diào)的心室動脈連接；視神經(jīng)發(fā)育不全;微弱的哭聲；眼積水;后顱骨不對稱；顱頂扁平化；頭部扁平;眼球大；斜頭畸形；斜頭畸形非收縮性；菱形頭；先天性腦疝；腦干發(fā)育不全;沒有耳道；沒有外耳道；外耳道閉鎖;聽道閉鎖；高爾斯標志； Gowers 簽名禮物；腎發(fā)育不良；腎發(fā)育不良;面具般的面容；花花公子沃克綜合癥；嚴重精神發(fā)育遲滯；極度智力障礙；肌張力減退嚴重；視網(wǎng)膜脫離；肌肉活檢顯示營養(yǎng)不良性改變；先天性眼部缺損（疾?。?；左心室致密化不全 12型；左心室致密化不全 2型；巨腦回;肌營養(yǎng)不良癥;肺動脈狹窄；聲音異常；肛門無孔；遠視;先天性小耳朵；多小腦回；近端肌肉無力；近端神經(jīng)源性肌肉無力；視網(wǎng)膜變性；角膜基質(zhì)混濁；角膜混濁；前凸;肌電圖異常；言語障礙；小腦發(fā)育不全；近端指間關(guān)節(jié)屈曲攣縮；唇裂；胼胝體發(fā)育不全；心肌病擴張型；房間隔缺損；短頭畸形；寬顱骨形狀；肌肉張力亢進；寬顱骨形狀；胼胝體發(fā)育不全；沒有反射；腱反射消失；關(guān)節(jié)攣縮；屈曲攣縮；關(guān)節(jié)屈曲攣縮；反射深肌腱缺席；攣縮;異常小的眼球；眼球變小；嚴重智力低下（IQ 20-34）；小眼球;漏斗胸;腦電圖異常；精神障礙；認知障礙；失明合法；盲目視力；肌病;腦積水;言語和語言發(fā)育遲緩；語言延遲；語音延遲；言語障礙；血清肌酸磷酸激酶升高；肌酸激酶升高；近視;青光眼;肌腱反射減弱；擴張的心室（發(fā)現(xiàn)）；呼吸功能喪失；步態(tài)異常；神經(jīng)源性肌肉萎縮癥；神經(jīng)源性肌肉萎縮尤其是下肢；呼吸功能不全；骨骼肌萎縮；肌肉退化;進行性疾病；電機延遲；沒有運動里程碑的發(fā)展；高度可變的臨床表型；高度可變的表型和嚴重程度；高度可變的表型即使在家庭內(nèi)部也是如此；表型變異性；高度可變的嚴重性；可變表現(xiàn)力； Uranostaphyloschisis;低視力;視力障礙；肌肉無力;腭裂；視神經(jīng)萎縮；晶狀體混濁；嬰兒期發(fā)病；白內(nèi)障;斜視；后天性脊柱側(cè)凸；脊柱彎曲；小頭;癲癇;肌肉張力減退；癲癇發(fā)作；認知延遲；整體發(fā)育遲緩；智力和運動遲緩；智力遲鈍；智力低下；智力低下；精神缺陷；學習成績差；智力殘疾;常染色體隱性易感性

GWAS基因檢測所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

GWAS基因檢測所解碼的該基因突變會增加風險的疾病種類（中文版）：

以該基因做靶點的藥物（國際版）：

針對該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

藥房主任如何詢問關(guān)于FKTN的疾病風險評估知識

(責任編輯：佳學基因)

【佳學基因檢測】藥房主任如何詢問關(guān)于FKTN的疾病風險評估知識