【佳学基因检测】男性生殖科分子病理检测资质考核中关于FGFR3的问题及答案

基因检测的序列名称：

FGFR3

人体基因序列变化与疾病表征数据库中的基因代码：

2261

人体基因序列数据库中国际交流名称全称

fibroblast growth factor receptor 3

中国数据库中基因全称：

成纤维细胞生长因子受体3

基因检测报告英文版基因简介

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]

基因突变所影响的基因信息

该基因编码成纤维细胞生长因子受体（FGFR）家族的成员，其氨基酸序列在成员之间以及物种之间高度保守。FGFR家族成员的配体亲和力和组织分布彼此不同。全长代表性蛋白将由细胞外区域组成，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。这个特殊的家庭成员结合酸性和碱性成纤维细胞生长激素，并在骨骼发育和维持中发挥作用。该基因的突变会导致颅突增生和多种类型的骨骼发育不良。[由RefSeು୔

国际国内该碱基基因序列的其他英语文字母简称：

ACH, CD333, CEK2, HSFGFR3EX, JTK4

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4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：1795039；结束位置坐标为：1810599。该基因序列在GRCh38版本中的起始位置坐标为：1793299；结束位置坐标为：1808872。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）：

Endoplasmic reticulum

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）：

内质网

该基因序列变化后增加的疾病风险（国际版）：

Abnormality of lower limb joint; Achondroplasia; Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans; Broad femoral metaphyses; CATSHL syndrome; CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder); Dwarfism, lethal micromelic; Hypochondroplasia (disorder); Hypoplasia of foramen magnum; Long thorax; Lumbar kyphosis in infancy; Malignant neoplasm of urinary bladder; Muenke Syndrome; Skeletal dysplasia, San Diego type; Small foramen magnum; Spinal stenosis with reduced interpedicular distance; Stenosis of foramen magnum; THANATOPHORIC DYSPLASIA, TYPE I (disorder); Thanatophoric Dysplasia; Thanatophoric dysplasia, type 2; Thimble-shaped middle phalanges of hand; Trident hand; Wide-cupped costochondral junctions; cervical cancer; Cartilaginous exostosis; Posterior fossa compression syndrome; Seborrheic keratosis; Short-limb dwarfism identifiable during childhood; Small abnormally formed scapulae; Absence of the parotid gland; Absent proximal phalanx of thumb; Aplasia of the parotid gland; Aplasia/Hypoplasia of the mandible; Bilateral triphalangeal thumbs; Decreased projection of lower jaw; Deficiency of lower jaw; Enlarged cerebellum; Hypoplasia of the lacrimal puncta; Hypoplastic lacrimal duct; Hypoplastic lacrimal gland; Iridocele; Lacrimal gland aplasia; Lacrimoauriculodentodigital syndrome; Mandibular Retrusion; Nephrosclerosis; 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; Camptodactyly of toe; Coronal hypospadias; Dacryocystitis; Increased vertebral height; Lacrimal Puncta, Absence of; Limited hip extension; Narrow sacroiliac notch; Radial deviation of the 3rd finger; Shortened sacroiliac notches; Subcoronal hypospadias; Teratoma; Thenar hypoplasia; Capitate-hamate fusion; Fibular bowing; NEVUS, EPIDERMAL (disorder); Numerous nevi; Seminoma; Severe platyspondyly; Abnormality of the elbow; Abnormality of the femur; Absent mandible; Cervical vertebral abnormalities; Cloverleaf cranium shape; Generalized joint laxity; Increased nuchal translucency; Partial duplication of thumb phalanx; Peg shaped front tooth; Peg-shaped incisors; Pointed front tooth; Pointed incisor; Upper airway obstruction; Cloverleaf skull; Short extremities; Congenital hypoplasia of femur; Macrocephaly; Metaphyseal chondrodysplasia; Narrow internal auditory canal; Radial polydactyly; Sleep Apnea, Central; Alacrima; Generalized seizures; Generalized seizures, recurrent; Lacrimal Duct Obstruction; Mesomelia; Obstruction of nasolacrimal duct; Periorbital fullness; Simple syndactyly of fingers - first web; Abnormality of the antihelix; Delayed eruption of primary teeth; Inflammatory abnormality of the eye; Short limb dwarfism recognizable at birth; Sleep Apnea, Obstructive; Small face; Arnold Chiari Malformation; Blepharospasm; Acrocephaly; Carpal synostosis; Diaphyseal thickening; Epithelial corneal erosions; Giant Cell Glioblastoma; Hearing Loss, Mixed Conductive-Sensorineural; Infantile muscular hypotonia; Recurrent erosion of cornea; Short middle phalanges; Tarsal Coalition; Aplasia/Hypoplasia of the lungs; Hypoplastic ilia; Leiomyosarcoma of uterus; Small wings of the pelvic girdle; Abnormality of the clavicle; Coronal craniosynostosis; Ectopic Tissue; Neonatal Death; Testicular Germ Cell Tumor; Absence of radius and ulna; Absent radius; Corneal Ulcer; Radial aplasia; Short femoral neck; Cone-shaped epiphyses of phalanges; Excessive wrinkled skin; Sleep Apnea Syndromes; gliosarcoma; Abnormality of the metacarpal bones; Capuchin ears; Cupped ears (finding); Transitional cell carcinoma of bladder; Hereditary nonpolyposis colorectal carcinoma; Gonadal Dysgenesis, Mixed; Pure gonadal dysgenesis; Visual field defects; Acanthosis Nigricans; Asymmetry of the posterior cranium; Femoral bowing; Flattening of cranial vault; Flattening of head; Gonadal Dysgenesis; Limited elbow extension; Narrow palate; Plagiocephaly; Plagiocephaly, Nonsynostotic; Rhomboid shaped head; Splayed metaphyses; Tibial bowing; Increased gastric cancer; Open Bite; Short thorax; Otitis Media; Congenital hypoplasia of radius; Radial ray hypoplasia; Short tubular bones; Cone-shaped epiphyses; Intracranial Hypertension; Metaphyseal irregularity; Short ulnae; Structure of wormian bone; ULNAR HYPOPLASIA; Claw hand; Rhizomelia; Uterine Cervical Neoplasm; Choanal Atresia; Late fontanel closure; Noncancerous mole; Redundant skin; Broad hallux; Contracture of joint of hand; Genu varum; Low anterior hairline; Short ribs; Abnormally-shaped vertebrae; Bowing of the long bones; Congenital absence of kidney; Hypoplastic toes; Profound Mental Retardation; Profound intellectual disabilities; Abnormality of the ribs; High, narrow palate; Skin hyperelastic; Carcinoma, Transitional Cell; Facial asymmetry; Multiple Myeloma; Bilateral single transverse palmar creases; Tall stature; Defective enamel matrix; Dental Enamel Hypoplasia; Dysplasia of tooth enamel; Thin dental enamel; Lumbar lordosis; Dwarfism; Malformed pinnae; Abnormality of pelvic girdle bone morphology; Convex nasal ridge; Radially deviated fingers; Skull malformation; Underdeveloped brows; Underdeveloped supraorbital ridges; Recurrent otitis media; Xerostomia; Melanocytic nevus; Craniosynostosis; Wide anterior fontanel; Inadequate arch length for tooth size; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Global developmental delay, severe; Severe psychomotor retardation; Abnormality of the metaphyses; Congenital small ears; Syndactyly of fingers; Arachnodactyly; Cerebellar hypoplasia and atrophy; Chronic otitis media; Flat face; ear infection chronic; Narrow thorax; Short hands; Lordosis; Reduced fetal movement; Angle class 2 malocclusion; Angle class 3 malocclusion; Convex nasal bridge; Malocclusion; Platyspondyly; Prominent nasal bridge; Micromelia; Abnormal skeletal development; Broad forehead; Congenital clinodactyly; Curvature of digit; 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; Hypoplastic feet; Osteochondrodysplasias; Dental caries; Rotting teeth; Flexion contracture of proximal interphalangeal joint; Isolated cases; Joint hyperflexibility; Cleft Lip; Hyperhidrosis disorder; Hypodontia; Increased sweating; Sweating; Polyhydramnios; Brachycephaly; Broad cranium shape; Wide skull shape; Hypoplasia of corpus callosum; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Severe mental retardation (I.Q. 20-34); Degenerative brain disorder; Pectus excavatum; High forehead; Mental impairment; Tall forehead; Impaired cognition; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Bilateral fifth finger clinodactyly; Curvature of little finger; Hydrocephalus; Bladder Neoplasm; Hyperkyphosis; Kyphosis deformity of spine; Conductive hearing loss; Dilated ventricles (finding); Brachydactyly; Respiratory function loss; Hypotrophic malar bone; Malar flattening; Abnormality of metabolism/homeostasis; Respiratory Insufficiency; Renal Cell Carcinoma; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Motor delay; No development of motor milestones; Frontal bossing; Downward slant of palpebral fissure; Infant, Small for Gestational Age; Intrauterine retardation; Cerebral atrophy; Congenital deafness; Fetal Growth Retardation; Hearing Loss, Partial; Anteverted nostril; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Cleft Palate; hearing impairment; Colorectal Neoplasms; Blepharoptosis; Orbital separation excessive; Cryptorchidism; Strabismus; Obesity; Acquired scoliosis; Curvature of spine; Sensorineural Hearing Loss (disorder); Stomach Neoplasms; Small head; Short stature; 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

如果该基因突变后，风险可能增加的疾病类型（中文版）：

下肢关节异常；软骨发育不全；软骨发育不全严重发育迟缓和黑棘皮病；广泛的股骨干骺端； CATSHL 综合征； CROUZON 综合征伴黑棘皮病（紊乱）；侏儒症致命的小动物；软骨发育不全（障碍）；枕骨大孔发育不全；长胸;婴儿期腰椎后凸；膀胱恶性肿瘤；穆恩克综合症；骨骼发育不良圣地亚哥型；小枕骨大孔；椎弓根间距减小的椎管狭窄；枕骨大孔狭窄；致死性发育不良I 型（紊乱）；致死性发育不良；致死性发育不良2 型；手的顶针状中间指骨；三叉戟手；宽杯状肋软骨连接处；宫颈癌;软骨外生疣；后颅窝压迫综合征；脂溢性角化病;儿童时期可识别的短肢侏儒症；小的异常形成的肩胛骨；没有腮腺;没有拇指的近节指骨；腮腺发育不全;下颌骨发育不全/发育不全；双侧三指拇指；下颌突出减少；下颌骨缺损；扩大的小脑;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；下颌后缩；肾硬化；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；脚趾弯曲；冠状尿道下裂;泪囊炎;椎骨高度增加；泪点缺失；髋关节伸展受限；狭窄的骶髂切迹；第三指桡偏；缩短的骶髂切迹；冠状下尿道下裂；畸胎瘤；鱼际发育不全;头状钩骨融合；腓骨弯曲；痣表皮（紊乱）；许多痣;精原细胞瘤；严重的扁桃体畸形；肘部异常;股骨异常;没有下颌骨；颈椎异常；三叶草颅骨形状；全身关节松弛；增加颈部半透明层；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；三叶草头骨；四肢短；先天性股骨发育不全；巨头畸形；干骺端软骨发育不良；狭窄的内耳道；桡骨多指；睡眠呼吸暂停中央；泪腺;全身性发作；全面性发作反复发作；泪道阻塞；中肢;鼻泪管阻塞；眶周丰满度；手指的简单并指 - 第一网;反螺旋异常；乳牙延迟萌出；眼睛的炎症异常;出生时可识别的短肢侏儒症；睡眠呼吸暂停阻塞性；小脸； Arnold Chiari 畸形；眼睑痉挛；尖头畸形；腕关节早闭；骨干增厚；上皮角膜糜烂;巨细胞胶质母细胞瘤；听力损失混合传导-感觉神经性；婴儿肌张力减退症;角膜反复糜烂;短的中间指骨；跗骨联盟；肺发育不全/发育不全；髂骨发育不良；子宫平滑肌肉瘤;骨盆带的小翼；锁骨异常;冠状颅缝早闭；异位组织；新生儿死亡；睾丸生殖细胞肿瘤；没有桡骨和尺骨；缺少半径；角膜溃疡；放射状发育不全；股骨颈短；指骨的锥形骨骺；皮肤皱纹过多；睡眠呼吸暂停综合症；胶质肉瘤;掌骨异常;卷尾猴的耳朵；杯状耳朵（发现）；膀胱移行细胞癌；遗传性非息肉病性结直肠癌；性腺发育不全混合；纯性腺发育不全；视野缺陷；黑棘皮病；后颅骨不对称；股骨弯曲；颅顶扁平化；头部扁平;性腺发育不全；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；张开的干骺端；胫骨弯曲；增加胃癌；打开咬合；胸部短；中耳炎;先天性桡骨发育不全；放射线发育不全；短管状骨；锥形骨骺；颅内高压；干骺端不规则；短尺骨；蠕虫骨骼的结构；尺骨发育不全；爪手；根茎;子宫颈肿瘤；后鼻孔闭锁；囟门晚闭；非癌性痣；多余的皮肤；大拇指；手关节挛缩；膝内翻；低前发际线；短肋;异常形状的椎骨;长骨弯曲；先天性无肾；发育不良的脚趾；严重精神发育迟滞；极度智力障碍；肋骨异常;高而窄的上颚；皮肤超弹性；癌移行细胞；面部不对称；多发性骨髓瘤;双侧单横掌横纹；身材高大；牙釉质基质缺陷；牙釉质发育不全；牙釉质发育不良;薄牙釉质；腰椎前凸；侏儒症；畸形耳廓；骨盆带骨形态异常；凸鼻梁；径向偏离的手指;颅骨畸形；眉毛不发达；眶上脊发育不全；复发性中耳炎；口干;黑色素细胞痣;颅缝早闭；宽大的前囟门；牙齿尺寸的牙弓长度不足；牙齿拥挤；牙弓大小不一致；牙齿大小不一致；整体发育迟缓严重；严重的精神运动迟缓；干骺端异常；先天性小耳朵；手指并指；蛛形纲；小脑发育不全和萎缩；慢性中耳炎;平面；耳部感染慢性;狭窄的胸部;手短；前凸;胎动减少；角度 2 级错牙合；角度 3 级错牙合；凸鼻梁；咬合不正；鸭嘴兽;突出的鼻梁；小梅利亚；骨骼发育异常；额头宽阔；先天性斜指；数字曲率；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；发育不全的脚；骨软骨发育不良;龋齿;蛀牙;近端指间关节屈曲挛缩；孤立个案；关节过度灵活；唇裂；多汗症;缺牙症;出汗增多；出汗;羊水过多;短头畸形；宽颅骨形状；宽颅骨形状；胼胝体发育不全；眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;严重智力低下（IQ 20-34）；退化性脑病；漏斗胸;高额头;精神障碍；额头高；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；双侧小指弯曲；小指弯曲；脑积水;膀胱肿瘤；脊柱后凸;脊柱后凸畸形；传导性听力损失；扩张的心室（发现）；短指；呼吸功能丧失；营养不良的颧骨;颧骨变平；新陈代谢/稳态异常；呼吸功能不全；肾细胞癌；大颅骨;头围增加；颅骨体积增大；颅骨尺寸增大；电机延迟；没有运动里程碑的发展；正面凸起；睑裂向下倾斜；婴儿小于胎龄儿；宫内发育迟缓;脑萎缩；先天性耳聋；胎儿生长迟缓；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;结直肠肿瘤；上睑下垂；轨道分离过度；隐睾;斜视；肥胖;后天性脊柱侧凸；脊柱弯曲；感音神经性听力损失（障碍）；胃肿瘤；小头;身材矮小；癫痫;肌肉张力减退；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;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）：

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

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）：

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

以该基因做靶点的药物（国际版）：

Palifermin (Protein tyrosine kinase activity);XL999 (Protein tyrosine kinase activity);Pazopanib (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（蛋白质酪氨酸激酶活性）；XL999（蛋白质酪氨酸激酶活性）；Pazopanib（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）