【佳學(xué)基因檢測】NGS基因檢測報告FGS2突變，是什么意思？

基因檢測的序列名稱：

FGS2

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2316

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

filamin A

中國數(shù)據(jù)庫中基因全稱：

纖維蛋白A

基因檢測報告英文版基因簡介

The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

基因突變所影響的基因信息

由該基因編碼的蛋白質(zhì)是一種肌動蛋白結(jié)合蛋白，可以使肌動蛋白絲交聯(lián)并使肌動蛋白絲與膜糖蛋白連接。編碼的蛋白質(zhì)參與細(xì)胞骨架的重塑，以影響細(xì)胞形狀和遷移的變化。該蛋白與整聯(lián)蛋白，跨膜受體復(fù)合物和第二信使相互作用。該基因的缺陷是多種綜合征的病因，包括心室周圍結(jié)節(jié)性異位癥（PVNH1，PVNH4），耳指綜合癥（OPD1，OPD2），額ta骨發(fā)育異常（FMD），梅爾尼克-尼德勒斯綜合征（MNS）和X連鎖先天性特發(fā)性腸假性梗阻（CIIPX）。已為該基因找到了兩個編碼不同同工型的轉(zhuǎn)錄物變體。[由RefSeq提供，2009??

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD

基因解碼對該基因序列在細(xì)胞核中的染色體所給予的編號：

該基因序列位于人類第正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容號染色體上。

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(biāo)為：153576900；結(jié)束位置坐標(biāo)為：153603006。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：154348529；結(jié)束位置坐標(biāo)為：154374638。正確的基因信息定位是基因檢測和對檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對該基因的功能分類：國際版

Transporters/Accessory Factors Involved in Transport

基因解碼對該基因的功能分類：中文版

轉(zhuǎn)運蛋白/參與轉(zhuǎn)運的輔助因素

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

Actin filaments;Cytosol;Plasma membrane

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(xì)胞內(nèi)位置（中文版）：

肌動蛋白絲；胞質(zhì)溶膠；質(zhì)膜

該基因序列變化后增加的疾病風(fēng)險（國際版）：

Abnormality of the fifth metatarsal bone; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Bulbous tips of toes; Cardiac valvular dysplasia, X-linked; Coat hanger sign of ribs; Congenital dysplasia of cardiac valve; FG SYNDROME 2; Heterotopia, Periventricular, Ehlers-Danlos Variant; Hirsute forehead; Increased density of long bone diaphyses; Intestinal hypoplasia; Lateral femoral bowing; Localized Skin Lesion; Long phalanx of finger; Melnick-Needles Syndrome; Neuronal intestinal pseudoobstruction; Nonossified fifth metatarsal; OTOPALATODIGITAL SYNDROME, TYPE II; Partial fusion of carpals; Partial fusion of tarsals; Periventricular Heterotopia, X-Linked; Rudimentary fibula; Short 3rd metacarpals; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Steep mandibular plane angle; Underdeveloped superior crus of antihelix; Undulate clavicles; Vertical clivus; Abnormal hand bone ossification; Accessory carpal bone; Antegonial notching of mandible; Broad phalanges of the hand; Congenital idiopathic intestinal pseudoobstruction; Delayed coalescence of calcaneal ossification centers; Frontometaphyseal dysplasia; Irregular metacarpals; Limited knee flexion; Long metacarpals; Multiple buried teeth; Multiple impacted teeth; Oto-Palato-digital syndrome type 1; Short distal phalanx of hallux; Stenosis of ureter; Terminal Osseous Dysplasia and Pigmentary Defects; Thick skull base; Tricuspid Valve Prolapse; Abnormal foot bone ossification; Abnormal maturation of foot bones; Abnormal ossification involving bones of the feet; Broad distal phalanx (thumb); Clinodactyly of toes; Cor pulmonale; Hyperplasia of forehead; Hypertrophy of forehead; Large forehead; Long neck; Missing all teeth; Posterior vertebral hypoplasia; Toe curvature; Camptodactyly of toe; Intestinal Pseudo-Obstruction; Periventricular Nodular Heterotopia; Tricuspid Valve Insufficiency; fibroma; Abnormal vertebral segmentation and fusion; Absent/hypoplastic paranasal sinuses; Capitate-hamate fusion; FG syndrome; Fused cervical vertebrae; HyperCalcification of skull base; HyperMineralization of skull base; Hypoplasia of muscle; Noisy respiration; Phyllodes Tumor; Sclerosis of skull base; Second finger clinodactyly; Short 5th metacarpal; Short thumb terminal phalanx; Spondylolysis; Stridor; Absence of a tooth; Decreased pneumatization of frontal sinus; Fibular aplasia; Flexion contracture - wrist; Hyperplasia of foramen magnum; Hypoplastic frontal sinuses; Hypotrophic frontal sinus; Increased circumference of foramen magnum; Increased diameter of foramen magnum; Increased mean platelet volume; Large foramen magnum; Periventricular neuronal heterotopia; Selective tooth agenesis; Ureteral obstruction; Abnormality of oral frenula; Broad face; Developmental absence of tooth; Short 4th metacarpal; Abnormality of position of teeth; Absent frontal sinuses; Aplasia of frontal sinus; Failure of exfoliation of primary tooth; Long foot; Misalignment of teeth; Ankle contracture; Hernia; Long fingers; Short lower third of face; Small chin; Synostosis of carpal bones; Glossoptosis; Overlapping fingers; Posterior displacement of the tongue; Small face; Ulnar bowing; Craniofacial hyperostosis; Delayed closure of the soft spot on the skull; Enlargement of craniofacial bones; Hypertrophy of craniofacial bones; Late closure of anterior fontanel; Thick craniofacial bones; Acro-Osteolysis; Pierre Robin Syndrome; VALVULAR ABNORMALITY; Flared iliac wings; Hypoplastic ilia; Radial bowing; Small wings of the pelvic girdle; Congenital dislocation of radial head; Ectopic Tissue; Hypoplastic scapulae; Seizures, Focal; Dilatation of ureter; Uroureter; Bicuspid aortic valve; Cone-shaped epiphyses of phalanges; Congenital malrotation of intestine; Short hallux; Short upper arms; Abnormality of the metacarpal bones; Increased thickness of cranium; Proximally placed thumbs; Stillbirth; Thickened calvaria; Congenital hypoplasia of clavicle; Hyperplasia of supraorbital margins; Hyperplasia of supraorbital ridge; Hypertrophy of supraorbital margins; Hypertrophy of supraorbital ridge; Lipoatrophy; Prominent supraorbital ridges; Femoral bowing; Limited elbow extension; Splayed metaphyses; Tibial bowing; Agenesis of teeth; Congenital omphalocele; Reduced number of teeth; Short metatarsal; Ulnar deviation of the fingers; Coxa valga; Coxa valga deformity; Missing more than six teeth; Prominent back of the head; Prominent occiput; Osteosclerosis; Scapular weakness; Winged scapula; Oligodontia; Sandal gap; Structure of wormian bone; Abnormal pigmentation; Heart Septal Defects; Vertical Talus; Hypoplasia of thumb; Broad thumbs; Hypotrichosis; Late fontanel closure; Broad hallux; Aortic Valve Insufficiency; Short ribs; Abnormally-shaped vertebrae; Bowing of the long bones; Coarse hair; Hoarseness; Hypoplastic toes; Malformations of Cortical Development, Group II; Rough hair texture; Abnormality of the ribs; Flexion contracture - elbow; Mitral regurgitation, mild; Mitral Valve Insufficiency; Pointed chin; Range of joint movement increased; Advanced bone age; Heart valve disease; Bleeding tendency; Coloboma of iris; Pyloric Stenosis; Idiopathic pulmonary arterial hypertension; Mitral Valve Prolapse Syndrome; Pulmonary arterial hypertension; Auricular malformation; Simple ear; Recurrent otitis media; Abdomen distended; Blood Coagulation Disorders; Smooth philtrum; Short metacarpal; Wide anterior fontanel; Syndactyly of the toes; Hirsutism; Large bregma sutures; Large fontanelle; Large, late-closing fontanelle; Thin skin; Ulnar polydactyly of fingers; Wide bregma sutures; Abnormality of the metaphyses; Congenital hypoplasia of lung; Distortion of face; Dysmorphic facies; Funny looking face; Hip Dislocation, Congenital; facial deformity; Arachnodactyly; Short distal phalanges; Flat face; Nail dysplasia; Decreased joint mobility; Dystrophia unguium; Narrow thorax; Short hands; Knee joint valgus deformity; Angle class 2 malocclusion; Angle class 3 malocclusion; Cerebrovascular accident; Malocclusion; Platyspondyly; Postnatal growth retardation; X-linked dominant; Congenital anomaly of face; Abnormal skeletal development; Broad forehead; Kyphoscoliosis deformity of spine; Dental abnormalities; Late tooth eruption; Posteriorly rotated ear; Cerebellar Hypoplasia; Neonatal Hypotonia; Bulging forehead; Prominent forehead; Hydronephrosis; Pulmonary Hypertension; Tooth Abnormalities; Mild Mental Retardation; Acquired flat foot; Flatfoot; Osteochondrodysplasias; Flexion contracture of proximal interphalangeal joint; Congestive heart failure; Heartburn; Patent ductus arteriosus; Respiratory Failure; Microstomia; Gastroesophageal reflux disease; Joint stiffness; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Pectus excavatum; Mental impairment; Impaired cognition; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Penile hypospadias; Coarse facial features; Thickened facial skin with coarse facial features; Congenital clubfoot; X- linked recessive; Decreased platelet count; Hydrocephalus; Vomiting; Delayed speech and language development; Language Delay; Speech Delay; Speech impairment; Conductive hearing loss; Brachydactyly; Hypotrophic malar bone; Malar flattening; Thrombocytopenia; Short nose; Small nose; Abnormality of metabolism/homeostasis; Gait abnormality; Dyschezia; Neurogenic Muscular Atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Skeletal muscle atrophy; muscle degeneration; Constipation; Recurrent respiratory infections; Motor delay; No development of motor milestones; Frontal bossing; Downward slant of palpebral fissure; Uranostaphyloschisis; Heart failure; Feeding difficulties in infancy; Low set ears; Congenital deafness; Hearing Loss, Partial; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Cleft Palate; hearing impairment; Broad flat nasal bridge; Nasal bridge wide; Blepharoptosis; Infantile onset; Orbital separation excessive; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Sensorineural Hearing Loss (disorder); Failure to gain weight; Pediatric failure to thrive; Mammary Neoplasms; Short stature; Epilepsy; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Liver Cirrhosis, Experimental

如果該基因突變后，風(fēng)險可能增加的疾病類型（中文版）：

第五跖骨異常；胸椎前凹；位于前方的齒狀突；球根狀腳趾尖；心臟瓣膜發(fā)育不良X 連鎖；肋骨衣架征；先天性心臟瓣膜發(fā)育不良； FG 綜合征 2型；異位、腦室周圍、Ehlers-Danlos 變體；多毛的額頭；長骨骨干密度增加；腸發(fā)育不全;股骨外側(cè)彎曲；局部皮膚損傷；手指長指骨； Melnick-Needles 綜合癥；神經(jīng)元腸假性梗阻；非骨化的第五跖骨；耳腭指綜合征II 型；腕骨部分融合；跗骨部分融合；腦室周圍異位X 連鎖；發(fā)育不全的腓骨；短的第三掌骨；二尖瓣短腱索；三尖瓣短腱索；陡峭的下頜平面角；不發(fā)達(dá)的反螺旋上腳；起伏的鎖骨；垂直斜坡；異常的手骨骨化；副腕骨；下頜骨前切跡；手的寬指骨；先天性特發(fā)性腸假性梗阻；跟骨骨化中心的延遲合并；額骨干發(fā)育不良；不規(guī)則的掌骨；膝關(guān)節(jié)屈曲受限；長掌骨；多顆埋牙；多顆受影響的牙齒； Oto-Palato-digital 綜合征 1 型；拇指的短遠(yuǎn)端指骨；輸尿管狹窄;終末骨發(fā)育不良和色素缺陷；厚顱底；三尖瓣脫垂；腳骨骨化異常；腳骨異常成熟；涉及腳骨的異常骨化；寬遠(yuǎn)節(jié)指骨（拇指）；腳趾彎曲；肺心??；額頭增生;前額肥大;額頭大；長頸;缺牙；后椎骨發(fā)育不全;腳趾曲率；腳趾彎曲；腸假性梗阻；腦室周圍結(jié)節(jié)性異位；三尖瓣關(guān)閉不全；纖維瘤;椎體分割融合異常；鼻竇缺失/發(fā)育不全；頭狀鉤骨融合； FG綜合征；融合頸椎;顱底過度鈣化；顱底過度礦化；肌肉發(fā)育不全;嘈雜的呼吸;葉狀腫瘤；顱底硬化;食指彎曲；第 5 掌骨短；短拇指末端指骨；椎骨溶解；喘鳴；缺牙；額竇氣化減少；腓骨發(fā)育不全；屈曲攣縮 - 手腕；枕骨大孔增生；發(fā)育不良的額竇;萎縮性額竇;枕骨大孔周長增加；枕骨大孔直徑增加；平均血小板體積增加；枕骨大孔；腦室周圍神經(jīng)元異位；選擇性牙齒發(fā)育不全；輸尿管梗阻；口腔系帶異常；寬臉;發(fā)育性缺牙；第 4 掌骨短；牙齒位置異常；沒有額竇；額竇發(fā)育不全;乳牙脫落失?。婚L腳；牙齒錯位；踝關(guān)節(jié)攣縮；疝;長手指；臉的下三分之一短；小下巴；腕骨關(guān)節(jié)早閉；舌下垂；重疊的手指；舌頭向后移位；小臉；尺骨彎曲；顱面骨質(zhì)增生；延遲關(guān)閉頭骨上的軟點；顱面骨擴(kuò)大；顱面骨肥大;前囟閉合晚；厚厚的顱面骨；骨溶解；皮埃爾羅賓綜合癥；瓣膜異常；展開的髂翼；髂骨發(fā)育不良；徑向彎曲；骨盆帶的小翼；先天性橈骨頭脫位；異位組織；肩胛骨發(fā)育不全；癲癇發(fā)作局灶性；輸尿管擴(kuò)張；輸尿管;二尖瓣主動脈瓣；指骨的錐形骨骺；先天性腸旋轉(zhuǎn)不良；短拇指；上臂短；掌骨異常;顱骨厚度增加；拇指放在近端；死胎;加厚的顱骨；先天性鎖骨發(fā)育不全；眶上緣增生；眶上脊增生；眶上緣肥大；眶上脊肥大；脂肪萎縮；突出的眶上脊；股骨彎曲；肘部伸展受限；張開的干骺端；脛骨彎曲；牙齒發(fā)育不全；先天性臍膨出；牙齒數(shù)量減少；短跖骨;手指尺偏；髖外翻；髖外翻畸形；缺失超過六顆牙齒；突出的后腦勺；突出的枕骨；骨硬化；肩胛無力；翼狀肩胛;少齒類；涼鞋縫隙；蠕蟲骨骼的結(jié)構(gòu)；色素沉著異常；心室間隔缺損；垂直距骨；拇指發(fā)育不全；大拇指；少毛癥;囟門晚閉；大拇指；主動脈瓣關(guān)閉不全；短肋;異常形狀的椎骨；長骨彎曲；頭發(fā)粗；嘶啞;發(fā)育不良的腳趾；皮質(zhì)發(fā)育畸形II 組；毛發(fā)質(zhì)地粗糙；肋骨異常;屈曲攣縮——肘部；二尖瓣反流輕度；二尖瓣關(guān)閉不全；尖下巴;關(guān)節(jié)活動范圍增加；骨齡提前；心臟瓣膜??；出血傾向；虹膜缺損；幽門狹窄；特發(fā)性肺動脈高壓;二尖瓣脫垂綜合征；肺動脈高壓;耳廓畸形；簡單的耳朵；反復(fù)性中耳炎；腹部膨脹；血液凝固障礙；光滑的人中；短掌骨；寬大的前囟門；腳趾并趾；多毛癥；大前囟縫合線；大囟門；大的、晚閉的囟門；皮膚薄;手指尺骨多指；寬前囟縫合線；干骺端異常；先天性肺發(fā)育不全；面部扭曲；畸形面容；滑稽的臉；髖關(guān)節(jié)脫位先天性；面部畸形；蛛形綱；遠(yuǎn)端指骨短；平面；指甲發(fā)育不良;關(guān)節(jié)活動度下降；營養(yǎng)不良狹窄的胸部;手短；膝關(guān)節(jié)外翻畸形；角度 2 級錯牙合；角度 3 級錯牙合；腦血管意外；咬合不正；鴨嘴獸;產(chǎn)后發(fā)育遲緩； X連鎖顯性；面部先天性異常；骨骼發(fā)育異常；額頭寬闊；脊柱后凸畸形;牙齒異常；晚出牙；向后旋轉(zhuǎn)的耳朵；小腦發(fā)育不全；新生兒肌張力減退；額頭隆起；突出的額頭；腎積水;肺動脈高壓;牙齒異常；輕度智力低下；后天性扁平足；扁平足;骨軟骨發(fā)育不良;近端指間關(guān)節(jié)屈曲攣縮；充血性心力衰竭；胃灼熱;動脈導(dǎo)管未閉；呼吸衰竭;小口癥；胃食管反流病;關(guān)節(jié)僵硬；大耳廓；發(fā)育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松軟的耳朵； Macrotia;眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;漏斗胸;精神障礙；認(rèn)知障礙；面部中部突出減少；中面部營養(yǎng)不良；面中部后縮；中臉?。魂幥o尿道下裂;粗糙的面部特征；面部皮膚增厚五官粗糙；先天性馬蹄內(nèi)翻足； X連鎖隱性；血小板計數(shù)減少；腦積水;嘔吐；言語和語言發(fā)育遲緩；語言延遲；語音延遲；言語障礙；傳導(dǎo)性聽力損失；短指；營養(yǎng)不良的顴骨;顴骨變平；血小板減少癥;鼻子短；小鼻子;新陳代謝/穩(wěn)態(tài)異常；步態(tài)異常；排便困難；神經(jīng)源性肌肉萎縮癥；神經(jīng)源性肌肉萎縮尤其是下肢；骨骼肌萎縮；肌肉退化;便秘;反復(fù)呼吸道感染；電機(jī)延遲；沒有運動里程碑的發(fā)展；正面凸起；瞼裂向下傾斜； Uranostaphyloschisis;心臟衰竭;嬰兒喂養(yǎng)困難；低位耳朵；先天性耳聾；部分聽力損失；拜占庭拱形上顎；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聾；腭裂；聽力受損;寬扁的鼻梁；鼻梁寬；上瞼下垂；嬰兒期發(fā)病；軌道分離過度；隱睪;斜視；發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；后天性脊柱側(cè)凸；脊柱彎曲；感音神經(jīng)性聽力損失（障礙）；未能增加體重；兒科發(fā)育不良；乳腺腫瘤；身材矮??；癲癇;癲癇發(fā)作；認(rèn)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(xué)習(xí)成績差；智力殘疾;肝硬化實驗性

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

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GWAS基因檢測所解碼的該基因突變會增加風(fēng)險的疾病種類（中文版）：

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以該基因做靶點的藥物（國際版）：

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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）：

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