【佳学基因检测】NGS基因检测报告FGS2突变，是什么意思？

基因检测的序列名称：

FGS2

人体基因序列变化与疾病表征数据库中的基因代码：

2316

人体基因序列数据库中国际交流名称全称

filamin A

中国数据库中基因全称：

纤维蛋白A

基因检测报告英文版基因简介

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]

基因突变所影响的基因信息

由该基因编码的蛋白质是一种肌动蛋白结合蛋白，可以使肌动蛋白丝交联并使肌动蛋白丝与膜糖蛋白连接。编码的蛋白质参与细胞骨架的重塑，以影响细胞形状和迁移的变化。该蛋白与整联蛋白，跨膜受体复合物和第二信使相互作用。该基因的缺陷是多种综合征的病因，包括心室周围结节性异位症（PVNH1，PVNH4），耳指综合症（OPD1，OPD2），额ta骨发育异常（FMD），梅尔尼克-尼德勒斯综合征（MNS）和X连锁先天性特发性肠假性梗阻（CIIPX）。已为该基因找到了两个编码不同同工型的转录物变体。[由RefSeq提供，2009ು୔

国际国内该碱基基因序列的其他英语文字母简称：

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

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号染色体上。

基因解码对基因序列的精准定位

该基因序列在GRCh37版本中的起始位置坐标为：153576900；结束位置坐标为：153603006。该基因序列在GRCh38版本中的起始位置坐标为：154348529；结束位置坐标为：154374638。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Transporters/Accessory Factors Involved in Transport

基因解码对该基因的功能分类：中文版

转运蛋白/参与转运的辅助因素

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）：

Actin filaments;Cytosol;Plasma membrane

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）：

肌动蛋白丝；胞质溶胶；质膜

该基因序列变化后增加的疾病风险（国际版）：

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

如果该基因突变后，风险可能增加的疾病类型（中文版）：

第五跖骨异常；胸椎前凹；位于前方的齿状突；球根状脚趾尖；心脏瓣膜发育不良X 连锁；肋骨衣架征；先天性心脏瓣膜发育不良； FG 综合征 2型；异位、脑室周围、Ehlers-Danlos 变体；多毛的额头；长骨骨干密度增加；肠发育不全;股骨外侧弯曲；局部皮肤损伤；手指长指骨； Melnick-Needles 综合症；神经元肠假性梗阻；非骨化的第五跖骨；耳腭指综合征II 型；腕骨部分融合；跗骨部分融合；脑室周围异位X 连锁；发育不全的腓骨；短的第三掌骨；二尖瓣短腱索；三尖瓣短腱索；陡峭的下颌平面角；不发达的反螺旋上脚；起伏的锁骨；垂直斜坡；异常的手骨骨化；副腕骨；下颌骨前切迹；手的宽指骨；先天性特发性肠假性梗阻；跟骨骨化中心的延迟合并；额骨干发育不良；不规则的掌骨；膝关节屈曲受限；长掌骨；多颗埋牙；多颗受影响的牙齿； Oto-Palato-digital 综合征 1 型；拇指的短远端指骨；输尿管狭窄;终末骨发育不良和色素缺陷；厚颅底；三尖瓣脱垂；脚骨骨化异常；脚骨异常成熟；涉及脚骨的异常骨化；宽远节指骨（拇指）；脚趾弯曲；肺心病；额头增生;前额肥大;额头大；长颈;缺牙；后椎骨发育不全;脚趾曲率；脚趾弯曲；肠假性梗阻；脑室周围结节性异位；三尖瓣关闭不全；纤维瘤;椎体分割融合异常；鼻窦缺失/发育不全；头状钩骨融合； FG综合征；融合颈椎;颅底过度钙化；颅底过度矿化；肌肉发育不全;嘈杂的呼吸;叶状肿瘤；颅底硬化;食指弯曲；第 5 掌骨短；短拇指末端指骨；椎骨溶解；喘鸣；缺牙；额窦气化减少；腓骨发育不全；屈曲挛缩 - 手腕；枕骨大孔增生；发育不良的额窦;萎缩性额窦;枕骨大孔周长增加；枕骨大孔直径增加；平均血小板体积增加；枕骨大孔；脑室周围神经元异位；选择性牙齿发育不全；输尿管梗阻；口腔系带异常；宽脸;发育性缺牙；第 4 掌骨短；牙齿位置异常；没有额窦；额窦发育不全;乳牙脱落失败；长脚；牙齿错位；踝关节挛缩；疝;长手指；脸的下三分之一短；小下巴；腕骨关节早闭；舌下垂；重叠的手指；舌头向后移位；小脸；尺骨弯曲；颅面骨质增生；延迟关闭头骨上的软点；颅面骨扩大；颅面骨肥大;前囟闭合晚；厚厚的颅面骨；骨溶解；皮埃尔罗宾综合症；瓣膜异常；展开的髂翼；髂骨发育不良；径向弯曲；骨盆带的小翼；先天性桡骨头脱位；异位组织；肩胛骨发育不全；癫痫发作局灶性；输尿管扩张；输尿管;二尖瓣主动脉瓣；指骨的锥形骨骺；先天性肠旋转不良；短拇指；上臂短；掌骨异常;颅骨厚度增加；拇指放在近端；死胎;加厚的颅骨；先天性锁骨发育不全；眶上缘增生；眶上脊增生；眶上缘肥大；眶上脊肥大；脂肪萎缩；突出的眶上脊；股骨弯曲；肘部伸展受限；张开的干骺端；胫骨弯曲；牙齿发育不全；先天性脐膨出；牙齿数量减少；短跖骨;手指尺偏；髋外翻；髋外翻畸形；缺失超过六颗牙齿；突出的后脑勺；突出的枕骨；骨硬化；肩胛无力；翼状肩胛;少齿类；凉鞋缝隙；蠕虫骨骼的结构；色素沉着异常；心室间隔缺损；垂直距骨；拇指发育不全；大拇指；少毛症;囟门晚闭；大拇指；主动脉瓣关闭不全；短肋;异常形状的椎骨；长骨弯曲；头发粗；嘶哑;发育不良的脚趾；皮质发育畸形II 组；毛发质地粗糙；肋骨异常;屈曲挛缩——肘部；二尖瓣反流轻度；二尖瓣关闭不全；尖下巴;关节活动范围增加；骨龄提前；心脏瓣膜病；出血倾向；虹膜缺损；幽门狭窄；特发性肺动脉高压;二尖瓣脱垂综合征；肺动脉高压;耳廓畸形；简单的耳朵；复发性中耳炎；腹部膨胀；血液凝固障碍；光滑的人中；短掌骨；宽大的前囟门；脚趾并趾；多毛症；大前囟缝合线；大囟门；大的、晚闭的囟门；皮肤薄;手指尺骨多指；宽前囟缝合线；干骺端异常；先天性肺发育不全；面部扭曲；畸形面容；滑稽的脸；髋关节脱位先天性；面部畸形；蛛形纲；远端指骨短；平面；指甲发育不良;关节活动度下降；营养不良狭窄的胸部;手短；膝关节外翻畸形；角度 2 级错牙合；角度 3 级错牙合；脑血管意外；咬合不正；鸭嘴兽;产后发育迟缓； X连锁显性；面部先天性异常；骨骼发育异常；额头宽阔；脊柱后凸畸形;牙齿异常；晚出牙；向后旋转的耳朵；小脑发育不全；新生儿肌张力减退；额头隆起；突出的额头；肾积水;肺动脉高压;牙齿异常；轻度智力低下；后天性扁平足；扁平足;骨软骨发育不良;近端指间关节屈曲挛缩；充血性心力衰竭；胃灼热;动脉导管未闭；呼吸衰竭;小口症；胃食管反流病;关节僵硬；大耳廓；发育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松软的耳朵； Macrotia;眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;漏斗胸;精神障碍；认知障碍；面部中部突出减少；中面部营养不良；面中部后缩；中脸小；阴茎尿道下裂;粗糙的面部特征；面部皮肤增厚五官粗糙；先天性马蹄内翻足； X连锁隐性；血小板计数减少；脑积水;呕吐；言语和语言发育迟缓；语言延迟；语音延迟；言语障碍；传导性听力损失；短指；营养不良的颧骨;颧骨变平；血小板减少症;鼻子短；小鼻子;新陈代谢/稳态异常；步态异常；排便困难；神经源性肌肉萎缩症；神经源性肌肉萎缩尤其是下肢；骨骼肌萎缩；肌肉退化;便秘;反复呼吸道感染；电机延迟；没有运动里程碑的发展；正面凸起；睑裂向下倾斜； Uranostaphyloschisis;心脏衰竭;婴儿喂养困难；低位耳朵；先天性耳聋；部分听力损失；拜占庭拱形上颚；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聋；腭裂；听力受损;宽扁的鼻梁；鼻梁宽；上睑下垂；婴儿期发病；轨道分离过度；隐睾;斜视；发育不全的下颌骨髁；下颌发育不全;小颌畸形；后天性脊柱侧凸；脊柱弯曲；感音神经性听力损失（障碍）；未能增加体重；儿科发育不良；乳腺肿瘤；身材矮小；癫痫;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;肝硬化实验性