【佳学基因检测】解密FBN1基因筛查结果，如何指导一个的健康？

基因检测的序列名称：

FBN1

人体基因序列变化与疾病表征数据库中的基因代码：

2200

人体基因序列数据库中国际交流名称全称

fibrillin 1

中国数据库中基因全称：

原纤维蛋白1

基因检测报告英文版基因简介

This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]

基因突变所影响的基因信息

该基因编码原纤维蛋白家族的成员。编码的前原蛋白经过蛋白水解处理后生成两种蛋白，包括细胞外基质成分原纤维蛋白1和蛋白激素asprosin。Fibrillin-1是一种细胞外基质糖蛋白，可作为钙结合微纤维的结构成分。这些微纤维在整个身体的弹性和非弹性结缔组织中提供了承力结构支撑。由白色脂肪组织分泌的Asprosin已显示出调节葡萄糖稳态的作用。该基因的突变与马凡氏综合症和相关的MASS表型有关，还包括轻度偏远症候群，威尔-马切萨尼综合症，Shprintzen-Goldberg综合症和新生儿类胚综合症。[由Reು୔

国际国内该碱基基因序列的其他英语文字母简称：

ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2

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15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：48700503；结束位置坐标为：48937985。该基因序列在GRCh38版本中的起始位置坐标为：48408306；结束位置坐标为：48645788。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）：

Cytosol

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）：

Cytosol

该基因序列变化后增加的疾病风险（国际版）：

Abnormality of cardiac ventricle; ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; Fifth metacarpal notched on ulnar side; GELEOPHYSIC DYSPLASIA 2; GEMSS syndrome; Incisional hernia; Iridodonesis; Medial rotation of the medial malleolus; OVERLAP CONNECTIVE TISSUE DISEASE; Premature calcification of mitral annulus; Recurrent abdominal hernia; Stiff Skin Syndrome; Broad phalanges of the hand; Broad skull; Dilatation of pulmonary artery, unspecified; Echocardiogram abnormal; Hypoxemia; Increased arm span; Increased axial globe length; Shprintzen-Goldberg syndrome; Talipes Calcaneovarus; Tricuspid Valve Prolapse; Crumpled ear; Geleophysic dysplasia; Stiff skin; Weill-Marchesani syndrome; Dural ectasia; Proportionate short stature; Shallow anterior chamber of eye; Toe-walking gait; Tricuspid Valve Insufficiency; Acromicric Dysplasia; Aneurysm of ascending aorta; Aortic Rupture; Ascending aorta dilatation; Broad metacarpals; Broad metatarsals; Heart murmur; Long toes; Mitral Valve Stenosis; Widened metatarsal shaft; Premature osteoarthritis; Pneumothorax; Protrusio acetabuli; Spondylolisthesis; Abnormality of position of teeth; Aortic Aneurysm, Thoracic; Misalignment of teeth; Dilatation of aorta; Dissection of aorta; Marfan Syndrome; Thin bony cortex; Hypoplasia of iris; Lack of skin elasticity; Stretched skin; Aortic root dilatation; Marfanoid body habitus; Broad ribs; Eyebrow abnormalities; Genu recurvatum; Spinal canal stenosis; Aortic aneurysm, familial thoracic 3; Ascending aortic dissection; Corneal diameter increased; Cystic medial necrosis of aorta; Decreased subcutaneous adipose tissue; Descending aortic dissection; Dyspnea, Paroxysmal; Loeys-Dietz Aortic Aneurysm Syndrome; Shallow orbits; Abnormality of the iris; Congenital keratoglobus; Linear atrophy; Respiratory Distress Syndrome; Impaired left ventricular function; Left-Sided Heart Failure; Spade-like hand; Bullet vertebral body; Ectopia Lentis; Fetal overgrowth; Generalized overgrowth; Overgrowth; Ovoid vertebral bodies; Enlarged thorax; Lipoatrophy; Sternal anomalies; Aortic Valve Stenosis; Narrow palate; Deep philtrum; Depressed philtrum; Diffusely thickened skin; Pachyderma; Adducted thumb; Severe myopia; Hammer Toe; Pulmonary Emphysema; Short tubular bones; Cone-shaped epiphyses; Cutis Laxa; Dyspnea on exertion; Generalized elastolysis; Hanging skin; Hypoplasia of thumb; Aortic Valve Insufficiency; Decreased muscle mass; Hoarseness; Cutis marmorata; High, narrow palate; Mitral regurgitation, mild; Short phalanx of finger; Blue sclera; Hyperglycemia; Mitral Valve Insufficiency; Range of joint movement increased; Retinal Detachment; Tall stature; Lumbar lordosis; Dwarfism; Long eyelashes; Chest Pain; Small hand; Idiopathic pulmonary arterial hypertension; Mitral Valve Prolapse Syndrome; Pulmonary arterial hypertension; Decreased nerve conduction velocity; Smooth philtrum; Short metacarpal; Inadequate arch length for tooth size; Pulmonary Stenosis; Round face; Round, full face; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Bulbous nasal tip; Bulbous nose; Potato nose; Arachnodactyly; Chubby cheeks; Full cheeks; Hyperplasia of cheeks; Hypertrophy of cheeks; Puffy cheeks; Congenital pectus carinatum; Decreased joint mobility; Narrow face; Short hands; Thin face; Retrognathia; Kyphoscoliosis deformity of spine; Dental abnormalities; Enophthalmos; Sunken eyes; Full lower lip; Prominent lower lip; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Hypoplastic feet; Low Birth Weights; Pulmonary Hypertension; Small for gestational age (disorder); Thin upper lip vermilion; Tooth Abnormalities; Long face; Mild Mental Retardation; Acquired flat foot; Flatfoot; Congestive heart failure; Small testicle; Patent ductus arteriosus; Class III malocclusion; Coronary Artery Disease; Hypertrophy of lower jaw; Increased size of mandible; Long narrow head; Mandibular hyperplasia; Microstomia; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; mandibular excess (physical finding); Joint stiffness; Hyperinsulinism; Brachycephaly; Broad cranium shape; Congenital pes cavus; Wide skull shape; Contracture of joint; Flexion contracture; Flexion contractures of joints; Contracture; Pectus excavatum; Mental impairment; Impaired cognition; Blindness, Legal; Blind Vision; Cardiomegaly; Myopia; Glaucoma; Ventricular Septal Defects; Decreased tendon reflex; Brachydactyly; Feeding difficulties; Increase in blood pressure; Respiratory function loss; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Delayed bone age; Long philtrum; Liver Cirrhosis; Respiratory Insufficiency; Motor delay; No development of motor milestones; Endometriosis; Downward slant of palpebral fissure; Heart failure; Low set ears; Anteverted nostril; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Cataract; Orbital separation excessive; Hepatomegaly; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Hypertensive disease; Short stature; Muscle hypotonia; 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）：

心室异常； ECTOPIA LENTIS 1型分离的常染色体显性遗传；第五掌骨在尺侧切刻；地质发育不良 2型； GEMSS 综合症；切口疝； Iridodonesis;内踝向内旋转；重叠结缔组织病；二尖瓣环过早钙化；反复性腹疝；僵硬皮肤综合症；手的宽指骨；宽阔的头骨；肺动脉扩张未明确；超声心动图异常；低氧血症；臂展增加；增加轴向球体长度； Shprintzen-Goldberg 综合征；足跟骨足；三尖瓣脱垂；皱巴巴的耳朵； Geleophysic发育不良;皮肤僵硬； Weill-Marchesani 综合征；硬脑膜扩张；比例矮小；浅眼前房;脚趾行走步态；三尖瓣关闭不全；肢端发育不良；升主动脉瘤;主动脉破裂；升主动脉扩张；广泛的掌骨；广泛的跖骨;心脏杂音；长脚趾；二尖瓣狭窄；加宽跖骨轴；早发性骨关节炎；气胸;髋臼突出；脊椎滑脱;牙齿位置异常；主动脉瘤胸部；牙齿错位；主动脉扩张;主动脉夹层；马凡氏综合症；薄骨皮质;虹膜发育不全;皮肤缺乏弹性；拉伸的皮肤；主动脉根部扩张； Marfanoid体型；肋骨宽；眉毛异常；反膝；椎管狭窄；主动脉瘤家族性胸2型；升主动脉夹层；角膜直径增加；主动脉囊性内侧坏死；皮下脂肪组织减少；降主动脉夹层；呼吸困难阵发性； Loeys-Dietz 主动脉瘤综合征；浅轨道；虹膜异常；先天性角化球;线状萎缩；呼吸窘迫综合征；左心室功能受损；左心衰竭；铲状手；子弹椎体；异位扁豆；胎儿过度生长；普遍过度生长；过度生长；卵圆形椎体；胸部扩大；脂肪萎缩；胸骨异常；主动脉瓣狭窄；狭窄的上颚；深人中;抑郁的人中；皮肤普遍增厚；厚皮病；拇指内收；严重近视；锤状趾;肺气肿；短管状骨；锥形骨骺；皮肤松弛；劳累时呼吸困难；广泛性弹性组织溶解；挂皮；拇指发育不全；主动脉瓣关闭不全；肌肉量减少；嘶哑;橘皮；高而窄的上颚；二尖瓣反流轻度；手指短指骨；蓝色巩膜;高血糖；二尖瓣关闭不全；关节活动范围增加；视网膜脱离；身材高大；腰椎前凸；侏儒症；长长的睫毛;胸痛;小手；特发性肺动脉高压;二尖瓣脱垂综合征；肺动脉高压;神经传导速度降低；光滑的人中；短掌骨；牙齿尺寸的牙弓长度不足；肺动脉狭窄；圆脸;圆形全脸；牙齿拥挤；牙弓大小不一致；牙齿大小不一致；球状鼻尖；球鼻；土豆鼻子；蛛形纲；胖嘟嘟的脸颊;饱满的脸颊；脸颊增生;脸颊肥大;浮肿的脸颊；先天性鸡胸；关节活动度下降；窄脸；手短；瘦脸;后颌畸形；脊柱后凸畸形;牙齿异常；眼球内陷；凹陷的眼睛；饱满的下唇；突出的下唇；上颌骨突出减少；上颌骨缺乏；上颌骨发育不全;上颌骨营养不良；上颌后缩;上颌骨后缩；发育不全的脚；低出生体重；肺动脉高压;小于胎龄儿（疾病）；薄上唇朱红色；牙齿异常；拉长着脸;轻度智力低下；后天性扁平足；扁平足;充血性心力衰竭；小睾丸；动脉导管未闭； III 类咬合不正；冠状动脉疾病;下颌肥大;下颌骨增大；长而窄的头；下颌骨增生;小口症；狭窄的颅骨形状；窄头型；狭窄的颅骨形状； Turridolicochephaly;下颌过长（物理发现）；关节僵硬；高胰岛素血症；短头畸形；宽颅骨形状；先天性高弓足；宽颅骨形状；关节挛缩；屈曲挛缩；关节屈曲挛缩；挛缩;漏斗胸;精神障碍；认知障碍；失明合法；盲目视力；心脏肥大；近视;青光眼;室间隔缺损；肌腱反射减弱；短指；进食困难；血压升高；呼吸功能丧失；营养不良的颧骨;颧骨变平；鼻子短；小鼻子;骨龄延迟；长人中；肝硬化；呼吸功能不全；电机延迟；没有运动里程碑的发展；子宫内膜异位症；睑裂向下倾斜；心脏衰竭;低位耳朵；鼻孔前倾；拜占庭拱形上颚；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；晶状体混浊；宽扁的鼻梁；鼻梁宽；白内障;轨道分离过度；肝肿大；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；高血压病；身材矮小；肌肉张力减退；肝硬化实验性

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

Breast Neoplasms;Aortic Aneurysm, Thoracic

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）：

乳腺肿瘤；主动脉瘤，胸

以该基因做靶点的药物（国际版）：

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

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