【佳学基因检测】生殖科分子病理检测项目招标中关于FGFR2的问题及答案

基因检测的序列名称：

FGFR2

人体基因序列变化与疾病表征数据库中的基因代码：

2263

人体基因序列数据库中国际交流名称全称

fibroblast growth factor receptor 2

中国数据库中基因全称：

成纤维细胞生长因子受体2

基因检测报告英文版基因简介

The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

基因突变所影响的基因信息

该基因编码的蛋白质是成纤维细胞生长因子受体家族的成员，其中氨基酸序列在成员之间以及整个进化过程中高度保守。FGFR家族成员的配体亲和力和组织分布彼此不同。全长代表性蛋白由细胞外区域组成，该细胞外区域由三个免疫球蛋白样结构域，单个疏水性跨膜区段和细胞质酪氨酸激酶结构域组成。蛋白质的细胞外部分与成纤维细胞生长因子相互作用，使一系列下游信号运动，最终影响有丝分裂和分化。该特定家族成员是酸性，碱性和/或角质形成细胞生长因子的高亲和力受体，具体取决于同工型。该基因的突变与克鲁佐综合症，普发综合症，颅骨前突，阿珀特综ು୔

国际国内该碱基基因序列的其他英语文字母简称：

BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25

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10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：123237844；结束位置坐标为：123357972。该基因序列在GRCh38版本中的起始位置坐标为：121478330；结束位置坐标为：121598656。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

CD markers;Enzymes/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases};RAS pathway related proteins

基因解码对该基因的功能分类：中文版

CD 标记；酶/{酶蛋白/转移酶，激酶/Tyr 蛋白激酶}；RAS 通路相关蛋白

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）：

Vesicles

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）：

囊泡

该基因序列变化后增加的疾病风险（国际版）：

Abnormality of the periosteum; Acrobrachycephaly; Ankylosis; Apert syndrome; BENT BONE DYSPLASIA SYNDROME; Broad distal hallux; Craniofacial Dysostosis; Cutis Gyrata Syndrome of Beare And Stevenson; Ectopic anus; Incomplete ossification of pubis; Limbic malformations; Metopic depression; Morphological abnormality of the semicircular canal; Preauricular skin furrows; Prominent scrotal raphe; SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION; Steep acetabular roof; Thumb deviation; Abnormality of the nasolacrimal system; Absent first metatarsal; Acrocephalosyndactylia; Anomalous tracheal cartilage; Antley-Bixler Syndrome Phenotype; Antley-Bixler Syndrome, Autosomal Dominant; Calcaneonavicular fusion; Cartilaginous trachea; Cervical C5/C6 vertebrae fusion; Craniofacial dysostosis type 1; Cutis gyrata of palms and soles; JACKSON-WEISS SYNDROME; Multiple suture craniosynostosis; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Pfeiffer Syndrome; Pfeiffer type acrocephalosyndactyly; Abnormality of skull shape; Abnormality of the pancreas; Absence of the parotid gland; Absent proximal phalanx of thumb; Aplasia of the parotid gland; Asymmetrical skull; Bicoronal synostosis; Bilateral triphalangeal thumbs; Broad distal phalanx (thumb); Dextraposition of aorta; Hallux Varus; Hypoplasia of the lacrimal puncta; Hypoplastic lacrimal duct; Hypoplastic lacrimal gland; Iridocele; Lacrimal gland aplasia; Lacrimoauriculodentodigital syndrome; Malformation of skull shape; Nephrosclerosis; Overriding aorta; Parotid gland hypoplasia; Prominent crus of helix; Saethre-Chotzen Syndrome; Short middle phalanx of toe; Absence of Stensen duct; Agenesis of parotid duct; Agenesis of punctum lacrimale; Brachyturricephaly; Coronal hypospadias; Dacryocystitis; Furrowed palms and soles; Lacrimal Puncta, Absence of; Overfolding of the superior helices; Radial deviation of the 3rd finger; Subcoronal hypospadias; Thenar hypoplasia; Aqueductal Stenosis; Arachnoid Cysts; Arnold-Chiari Malformation, Type I; Broad metatarsals; Extramedullary Hematopoiesis (disorder); Extramedullary erythropoiesis; Flat forehead; Fused labia minora; Widened metatarsal shaft; Cervical vertebral abnormalities; Cloverleaf cranium shape; Disproportionately short middle phalanges; Interparietal craniosynostosis; Narrow pelvis; Partial duplication of thumb phalanx; Peg shaped front tooth; Peg-shaped incisors; Pointed front tooth; Pointed incisor; Upper airway obstruction; Ankylosis of the elbow joint; Anteriorly placed anus; Bronchomalacia; Cloverleaf skull; Motor Skills Disorders; Broad hallux phalanx; Macrocephaly; Narrow internal auditory canal; Posterior fossa cyst; Radial polydactyly; Radiohumeral synostosis of elbow; Ramer Ladda syndrome; Soft calvaria; Synostotic Posterior Plagiocephaly; Abnormality of the nasopharynx; Alacrima; CLEFT CHIN; Lacrimal Duct Obstruction; Natal Teeth; Obstruction of nasolacrimal duct; Pancreatic Diseases; Periorbital fullness; Simple syndactyly of fingers - first web; Synostosis of carpal bones; Thumb absent or hypoplastic; Abnormality of the antihelix; Atresia of vagina; Bell-shaped thorax; Delayed eruption of primary teeth; Hamartoma Syndrome, Multiple; Night blindness, congenital stationary, complete; Night blindness, stationary; Oguchi disease; Ulnar bowing; Aplasia/Hypoplasia of the earlobes; Arnold Chiari Malformation; Blepharospasm; Choanal stenosis; Cutaneous finger syndactyly; Hypoplastic ischia; Stomach Carcinoma; Tracheomalacia; Acrocephaly; Congenital anomaly of the kidney; Epithelial corneal erosions; Hearing Loss, Mixed Conductive-Sensorineural; Hearing abnormality; Recurrent erosion of cornea; Absence of septum pellucidum; Corneal diameter increased; Narrowing of ear canal; Shallow orbits; Stenosis of external auditory canal; Visceral angiomatosis; Congenital keratoglobus; Coronal craniosynostosis; Laryngomalacia; Absence of radius and ulna; Absent radius; Corneal Ulcer; Long nose; Night blindness, congenital stationary; Radial aplasia; Bifid scrotum; Limb Deformities, Congenital; Short hallux; Sleep Apnea Syndromes; Small labia majora; Capuchin ears; Cupped ears (finding); Abnormality of the palate; Congenital hypoplasia of clavicle; Hydrophthalmos; Spina Bifida; Acanthosis Nigricans; Asymmetry of the posterior cranium; Femoral bowing; Flattening of cranial vault; Flattening of head; Globe of eye large; Limited elbow extension; Narrow palate; Plagiocephaly; Plagiocephaly, Nonsynostotic; Rhomboid shaped head; Agenesis of teeth; Open Bite; Reduced number of teeth; Short metatarsal; Depressed cheekbone; Flattening of the zygomatic bone; Hypoplasia of the zygomatic bone; Hypotrophic cheekbone; Small cheekbone; Absent auditory canals; Absent external auditory canals; Atresia of the external auditory canal; Atretic auditory canal; Congenital hypoplasia of radius; Narrow nose; Radial ray hypoplasia; Simple syndactyly of toes, first web space; Abnormality of cardiovascular system morphology; Congenital heart disease; Intracranial Hypertension; Micronychia (disorder); Radioulnar Synostosis; Short ulnae; ULNAR HYPOPLASIA; Cholangiocarcinoma; Esophageal Atresia; Vertical Talus; Breast Carcinoma; Bunion; Hallux Valgus; Cleft uvula; Broad thumbs; Choanal Atresia; Late fontanel closure; Moderate mental retardation (I.Q. 35-49); Noncancerous mole; Broad hallux; Low anterior hairline; Congenital absence of kidney; Abnormality of the ribs; Skin hyperelastic; Facial asymmetry; Gingival Overgrowth; Acne; Bilateral single transverse palmar creases; Gingival Hypertrophy; Defective enamel matrix; Dental Enamel Hypoplasia; Dysplasia of tooth enamel; Gingival Hyperplasia; Thin dental enamel; abnormal growth; Conjunctivitis; Conjunctivitis, recurrent; Malformed pinnae; Skin Abnormalities; Abnormality of pelvic girdle bone morphology; Convex nasal ridge; Pyloric Stenosis; Skull malformation; Underdeveloped brows; Underdeveloped supraorbital ridges; Small hand; Congenital Camptodactyly; Hypertrophy of clitoris; Auricular malformation; Simple ear; Syndactyly; Xerostomia; Melanocytic nevus; Respiratory distress; Craniosynostosis; Wide anterior fontanel; Inadequate arch length for tooth size; Syndactyly of the toes; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Hirsutism; Large bregma sutures; Large fontanelle; Large, late-closing fontanelle; Wide bregma sutures; Congenital small ears; Distortion of face; Dysmorphic facies; Funny looking face; Syndactyly of fingers; facial deformity; Arachnodactyly; Chronic otitis media; Flat face; ear infection chronic; Decreased joint mobility; Endometrial Neoplasms; Multiple, subcutaneous nodules; Narrow thorax; Short hands; Subcutaneous nodule; Lordosis; Angle class 2 malocclusion; Angle class 3 malocclusion; Convex nasal bridge; Malocclusion; Prominent nasal bridge; Congenital anomaly of face; Congenital Heart Defects; Broad forehead; Palmoplantar Keratosis; Late tooth eruption; Cerebellar Hypoplasia; Somatic mutation; Telecanthus; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Hydronephrosis; Hypoplastic feet; Tooth Abnormalities; Mild Mental Retardation; Dental caries; Rotting teeth; Flexion contracture of proximal interphalangeal joint; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Long narrow head; Mandibular hyperplasia; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; mandibular excess (physical finding); Cleft Lip; Agenesis of corpus callosum; Hypodontia; Joint stiffness; Nonorganic psychosis; Atrial Septal Defects; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Brachycephaly; Broad cranium shape; Wide skull shape; Dermatologic disorders; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Generalized osteopenia; Osteopenia; High forehead; Tall forehead; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Bilateral fifth finger clinodactyly; Curvature of little finger; Low-set, posteriorly rotated ears; Hydrocephalus; Ventricular Septal Defects; Conductive hearing loss; Dilated ventricles (finding); Brachydactyly; Increase in blood pressure; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Long philtrum; Liver Cirrhosis; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Psychotic Disorders; Craniofacial Abnormalities; Frontal bossing; Downward slant of palpebral fissure; Highly variable severity; Variable expressivity; Uranostaphyloschisis; Feeding difficulties in infancy; Low Vision; Visual Impairment; Low set ears; Congenital deafness; Hearing Loss, Partial; Anteverted nostril; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Cleft Palate; hearing impairment; Lung Neoplasms; Optic Atrophy; Blepharoptosis; Orbital separation excessive; Mental Depression; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Hypertensive disease; Stomach Neoplasms; Depressive disorder; Mammary Neoplasms; Bipolar Disorder; 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; Schizophrenia; 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）：

骨膜异常;短头畸形；强直;阿佩特综合征；弯曲骨发育不良综合征；广泛的远侧拇趾；颅面发育不良； Beare 和 Stevenson 的 Cutis Gyrata 综合征；异位肛门；耻骨不完全骨化；边缘畸形；主题抑郁症；半规管形态异常；耳前皮肤皱纹；突出的阴囊中缝；舟骨畸形、上颌后缩和智力低下；陡峭的髋臼顶；拇指偏差；鼻泪管系统异常；第一跖骨缺失；尖头并指；气管软骨异常； Antley-Bixler 综合征表型； Antley-Bixler 综合征常染色体显性遗传；跟舟融合术；软骨气管;颈椎C5/C6椎骨融合术； 1 型颅面骨发育不全；手掌和足底的回皮； JACKSON-WEISS 综合症；多次缝合颅缝早闭；第二指远节指骨的部分复制；第 3 指远端指骨的部分复制；菲佛综合症； Pfeiffer 型尖头并指畸形；颅骨形状异常；胰腺异常;没有腮腺;没有拇指的近节指骨；腮腺发育不全;不对称的头骨；双冠缝早闭；双侧三指拇指；宽远节指骨（拇指）；主动脉右旋;拇外翻；泪点发育不全;泪道发育不全；泪腺发育不全；虹膜膨出；泪腺发育不全；泪耳齿指综合症；颅骨形状畸形；肾硬化；覆盖主动脉；腮腺发育不全;突出的螺旋脚； Saethre-Chotzen 综合征；脚趾的短中间指骨；没有 Stensen 导管；腮腺管发育不全；泪点发育不全；短头畸形；冠状尿道下裂;泪囊炎;皱纹的手掌和脚底；泪点缺失；上螺旋的过度折叠；第三指桡偏；冠状下尿道下裂；鱼际发育不全;导水管狭窄；蛛网膜囊肿； Arnold-Chiari 畸形I 型；广泛的跖骨;髓外造血（紊乱）；髓外红细胞生成；平坦的额头；融合的小阴唇；加宽跖骨轴；颈椎异常；三叶草颅骨形状；中间指骨不成比例地短；顶骨缝早闭；骨盆狭窄；拇指节部分重复；钉形门牙；钉形门牙；尖的门牙；尖门牙；上呼吸道阻塞；肘关节强直;肛门前位；支气管软化症；三叶草头骨；运动技能障碍；广泛的拇趾指骨;巨头畸形；狭窄的内耳道；后颅窝囊肿；桡骨多指；肘关节桡肱关节早闭； Ramer Ladda 综合症；软颅骨; Synostotic 后斜头畸形;鼻咽异常;泪腺;下巴裂；泪道阻塞；新生牙齿；鼻泪管阻塞；胰腺疾病；眶周丰满度；手指的简单并指 - 第一网;腕骨关节早闭；拇指缺失或发育不全；反螺旋异常；阴道闭锁；钟形胸部；乳牙延迟萌出；错构瘤综合征多发性；夜盲症先天静止完全；夜盲症静止不动；大口病；尺骨弯曲；耳垂发育不全/发育不全； Arnold Chiari 畸形；眼睑痉挛；后鼻孔狭窄；皮肤手指并指；坐骨发育不全；胃癌；气管软化症；尖头畸形；肾脏先天性异常;上皮角膜糜烂;听力损失混合传导-感觉神经性；听力异常；角膜反复糜烂;没有透明隔膜；角膜直径增加；耳道变窄；浅轨道；外耳道狭窄；内脏血管瘤病；先天性角化球;冠状颅缝早闭；喉软化症；没有桡骨和尺骨；缺少半径；角膜溃疡；长鼻子;夜盲症先天性静止；放射状发育不全；双歧阴囊;肢体畸形先天性；短拇指；睡眠呼吸暂停综合症；小阴唇；卷尾猴的耳朵；杯状耳朵（发现）；上颚异常；先天性锁骨发育不全；眼积水;脊柱裂；黑棘皮病；后颅骨不对称；股骨弯曲；颅顶扁平化；头部扁平;眼球大；肘部伸展受限；狭窄的上颚；斜头畸形；斜头畸形非收缩性；菱形头；牙齿发育不全；打开咬合；牙齿数量减少；短跖骨;颧骨凹陷；颧骨变平；颧骨发育不全;颧骨肥大；小颧骨；没有耳道；没有外耳道；外耳道闭锁;听道闭锁；先天性桡骨发育不全；窄鼻子；放射线发育不全；简单的脚趾并指第一个网页空间；心血管系统形态异常；先天性心脏病；颅内高压；小甲虫（紊乱）；尺桡骨早闭；短尺骨；尺骨发育不全；胆管癌；食管闭锁；垂直距骨；乳腺癌；拇囊炎;拇外翻;悬雍垂裂；大拇指；后鼻孔闭锁；囟门晚闭；中度智力低下（IQ 35-49）；非癌性痣；大拇指；低前发际线；先天性无肾；肋骨异常;皮肤超弹性；面部不对称；牙龈增生；粉刺;双侧单横掌横纹；牙龈肥大；牙釉质基质缺陷；牙釉质发育不全；牙釉质发育不良;牙龈增生；薄牙釉质；异常生长；结膜炎;结膜炎反复发作；畸形耳廓；皮肤异常；骨盆带骨形态异常；凸鼻梁；幽门狭窄；颅骨畸形；眉毛不发达；眶上脊发育不全；小手；先天性弯曲指；阴蒂肥大;耳廓畸形；简单的耳朵；并指;口干;黑色素细胞痣;呼吸窘迫；颅缝早闭；宽大的前囟门；牙齿尺寸的牙弓长度不足；脚趾并趾；牙齿拥挤；牙弓大小不一致；牙齿大小不一致；多毛症；大前囟缝合线；大囟门；大的、晚闭的囟门；宽前囟缝合线；先天性小耳朵；面部扭曲；畸形面容；滑稽的脸；手指并指；面部畸形；蛛形纲；慢性中耳炎;平面；耳部感染慢性;关节活动度下降；子宫内膜肿瘤；多个皮下结节；狭窄的胸部;手短；皮下结节；前凸;角度 2 级错牙合；角度 3 级错牙合；凸鼻梁；咬合不正；突出的鼻梁；面部先天性异常；先天性心脏缺陷；额头宽阔；掌跖角化病；晚出牙；小脑发育不全；体细胞突变；内眦赘皮；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；肾积水;发育不全的脚；牙齿异常；轻度智力低下；龋齿;蛀牙；近端指间关节屈曲挛缩； III 类咬合不正；下颌肥大;下颌骨增大；长而窄的头；下颌骨增生;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）；唇裂；胼胝体发育不全；缺牙症;关节僵硬；非器质性精神病；房间隔缺损；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;短头畸形；宽颅骨形状；宽颅骨形状；皮肤病；眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;广泛性骨质减少；骨质减少；高额头;额头高；面部中部突出减少；中面部营养不良；面中部后缩；中脸小；双侧小指弯曲；小指弯曲；位置低、向后旋转的耳朵；脑积水;室间隔缺损；传导性听力损失；扩张的心室（发现）；短指；血压升高；营养不良的颧骨;颧骨变平；鼻子短；小鼻子;长人中；肝硬化；大颅骨;头围增加；颅骨体积增大；颅骨尺寸增大；精神障碍；颅面异常；正面凸起；睑裂向下倾斜；高度可变的严重性；可变表现力； Uranostaphyloschisis;婴儿喂养困难；低视力;视力障碍；低位耳朵；先天性耳聋；部分听力损失；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；耳聋；腭裂；听力受损;肺肿瘤；视神经萎缩；上睑下垂；轨道分离过度；精神抑郁症；隐睾;斜视；发育不全的下颌骨髁；下颌发育不全;小颌畸形；高血压病；胃肿瘤；抑郁症；乳腺肿瘤；躁郁症;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;精神分裂症;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）：

Breast Neoplasms

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

以该基因做靶点的药物（国际版）：

Palifermin (Protein tyrosine kinase activity);Thalidomide (Protein tyrosine kinase activity);SU4984 (Protein tyrosine kinase activity);4-[4-(1-Amino-1-Methylethyl)Phenyl]-5-Chloro-N-[4-(2-Morpholin-4-Ylethyl)Phenyl]Pyrimidin-2-Amine (Protein tyrosine kinase activity);Regorafenib (Protein tyrosine kinase activity);Ponatinib (Protein tyrosine kinase activity);Lenvatinib (Protein tyrosine kinase activity);Nintedanib (Protein tyrosine kinase activity)

针对该基因所产生的突变，可能有精准效果的药物（中文版）：

Palifermin（蛋白酪氨酸激酶活性）；沙利度胺（蛋白酪氨酸激酶活性）；SU4984（蛋白酪氨酸激酶活性）；4-[4-(1-Amino-1-Methylethyl)Phenyl]-5-Chloro-N-[4- (2-Morpholin-4-Ylethyl)Phenyl]Pyrimidin-2-Amine（蛋白质酪氨酸激酶活性）；Regorafenib（蛋白质酪氨酸激酶活性）；Ponatinib（蛋白质酪氨酸激酶活性）；Lenvatinib（蛋白质酪氨酸激酶活性）；Nintedanib（蛋白质酪氨酸激酶活性）酪氨酸激酶活性）