【佳學(xué)基因檢測(cè)】男性生殖科分子病理檢測(cè)資質(zhì)考核中關(guān)于FGFR3的問題及答案

基因檢測(cè)的序列名稱：

FGFR3

人體基因序列變化與疾病表征數(shù)據(jù)庫(kù)中的基因代碼：

2261

人體基因序列數(shù)據(jù)庫(kù)中國(guó)際交流名稱全稱

fibroblast growth factor receptor 3

中國(guó)數(shù)據(jù)庫(kù)中基因全稱：

成纖維細(xì)胞生長(zhǎng)因子受體3

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)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]

基因突變所影響的基因信息

該基因編碼成纖維細(xì)胞生長(zhǎng)因子受體（FGFR）家族的成員，其氨基酸序列在成員之間以及物種之間高度保守。FGFR家族成員的配體親和力和組織分布彼此不同。全長(zhǎng)代表性蛋白將由細(xì)胞外區(qū)域組成，該細(xì)胞外區(qū)域由三個(gè)免疫球蛋白樣結(jié)構(gòu)域，單個(gè)疏水性跨膜區(qū)段和細(xì)胞質(zhì)酪氨酸激酶結(jié)構(gòu)域組成。蛋白質(zhì)的細(xì)胞外部分與成纖維細(xì)胞生長(zhǎng)因子相互作用，使一系列下游信號(hào)運(yùn)動(dòng)，賊終影響有絲分裂和分化。這個(gè)特殊的家庭成員結(jié)合酸性和堿性成纖維細(xì)胞生長(zhǎng)激素，并在骨骼發(fā)育和維持中發(fā)揮作用。該基因的突變會(huì)導(dǎo)致顱突增生和多種類型的骨骼發(fā)育不良。[由RefSe??

國(guó)際國(guó)內(nèi)該堿基基因序列的其他英語(yǔ)文字母簡(jiǎn)稱：

ACH, CD333, CEK2, HSFGFR3EX, JTK4

基因解碼對(duì)該基因序列在細(xì)胞核中的染色體所給予的編號(hào)：

該基因序列位于人類第4號(hào)染色體上。

基因解碼對(duì)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：1795039；結(jié)束位置坐標(biāo)為：1810599。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：1793299；結(jié)束位置坐標(biāo)為：1808872。正確的基因信息定位是基因檢測(cè)和對(duì)檢測(cè)結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對(duì)該基因的功能分類：國(guó)際版

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

基因解碼對(duì)該基因的功能分類：中文版

CD 標(biāo)記；酶/{酶蛋白/轉(zhuǎn)移酶，激酶/Tyr 蛋白激酶}；RAS 通路相關(guān)蛋白

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(chǎng)所（國(guó)際版）：

Endoplasmic reticulum

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）：

內(nèi)質(zhì)網(wǎng)

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國(guó)際版）：

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

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

下肢關(guān)節(jié)異常；軟骨發(fā)育不全；軟骨發(fā)育不全嚴(yán)重發(fā)育遲緩和黑棘皮病；廣泛的股骨干骺端； CATSHL 綜合征； CROUZON 綜合征伴黑棘皮?。ㄎ蓙y）；侏儒癥致命的小動(dòng)物；軟骨發(fā)育不全（障礙）；枕骨大孔發(fā)育不全；長(zhǎng)胸;嬰兒期腰椎后凸；膀胱惡性腫瘤；穆恩克綜合癥；骨骼發(fā)育不良圣地亞哥型；小枕骨大孔；椎弓根間距減小的椎管狹窄；枕骨大孔狹窄；致死性發(fā)育不良I 型（紊亂）；致死性發(fā)育不良；致死性發(fā)育不良2 型；手的頂針狀中間指骨；三叉戟手；寬杯狀肋軟骨連接處；宮頸癌;軟骨外生疣；后顱窩壓迫綜合征；脂溢性角化病;兒童時(shí)期可識(shí)別的短肢侏儒癥；小的異常形成的肩胛骨；沒有腮腺;沒有拇指的近節(jié)指骨；腮腺發(fā)育不全;下頜骨發(fā)育不全/發(fā)育不全；雙側(cè)三指拇指；下頜突出減少；下頜骨缺損；擴(kuò)大的小腦;淚點(diǎn)發(fā)育不全;淚道發(fā)育不全；淚腺發(fā)育不全；虹膜膨出；淚腺發(fā)育不全；淚耳齒指綜合癥；下頜后縮；腎硬化；腮腺發(fā)育不全;突出的螺旋腳； Saethre-Chotzen 綜合征；腳趾的短中間指骨；沒有 Stensen 導(dǎo)管；腮腺管發(fā)育不全；淚點(diǎn)發(fā)育不全；腳趾彎曲；冠狀尿道下裂;淚囊炎;椎骨高度增加；淚點(diǎn)缺失；髖關(guān)節(jié)伸展受限；狹窄的骶髂切跡；第三指橈偏；縮短的骶髂切跡；冠狀下尿道下裂；畸胎瘤；魚際發(fā)育不全;頭狀鉤骨融合；腓骨彎曲；痣表皮（紊亂）；許多痣;精原細(xì)胞瘤；嚴(yán)重的扁桃體畸形；肘部異常;股骨異常;沒有下頜骨；頸椎異常；三葉草顱骨形狀；全身關(guān)節(jié)松弛；增加頸部半透明層；拇指節(jié)部分重復(fù)；釘形門牙；釘形門牙；尖的門牙；尖門牙；上呼吸道阻塞；三葉草頭骨；四肢短；先天性股骨發(fā)育不全；巨頭畸形；干骺端軟骨發(fā)育不良；狹窄的內(nèi)耳道；橈骨多指；睡眠呼吸暫停中央；淚腺;全身性發(fā)作；全面性發(fā)作反反復(fù)作；淚道阻塞；中肢;鼻淚管阻塞；眶周豐滿度；手指的簡(jiǎn)單并指 - 先進(jìn)網(wǎng);反螺旋異常；乳牙延遲萌出；眼睛的炎癥異常;出生時(shí)可識(shí)別的短肢侏儒癥；睡眠呼吸暫停阻塞性；小臉； Arnold Chiari 畸形；眼瞼痙攣；尖頭畸形；腕關(guān)節(jié)早閉；骨干增厚；上皮角膜糜爛;巨細(xì)胞膠質(zhì)母細(xì)胞瘤；聽力損失混合傳導(dǎo)-感覺神經(jīng)性；嬰兒肌張力減退癥;角膜反復(fù)糜爛;短的中間指骨；跗骨聯(lián)盟；肺發(fā)育不全/發(fā)育不全；髂骨發(fā)育不良；子宮平滑肌肉瘤;骨盆帶的小翼；鎖骨異常;冠狀顱縫早閉；異位組織；新生兒死亡；睪丸生殖細(xì)胞腫瘤；沒有橈骨和尺骨；缺少半徑；角膜潰瘍；放射狀發(fā)育不全；股骨頸短；指骨的錐形骨骺；皮膚皺紋過多；睡眠呼吸暫停綜合癥；膠質(zhì)肉瘤;掌骨異常;卷尾猴的耳朵；杯狀耳朵（發(fā)現(xiàn)）；膀胱移行細(xì)胞癌；遺傳性非息肉病性結(jié)直腸癌；性腺發(fā)育不全混合；純性腺發(fā)育不全；視野缺陷；黑棘皮??；后顱骨不對(duì)稱；股骨彎曲；顱頂扁平化；頭部扁平;性腺發(fā)育不全；肘部伸展受限；狹窄的上顎；斜頭畸形；斜頭畸形非收縮性；菱形頭；張開的干骺端；脛骨彎曲；增加胃癌；打開咬合；胸部短；中耳炎;先天性橈骨發(fā)育不全；放射線發(fā)育不全；短管狀骨；錐形骨骺；顱內(nèi)高壓；干骺端不規(guī)則；短尺骨；蠕蟲骨骼的結(jié)構(gòu)；尺骨發(fā)育不全；爪手；根莖;子宮頸腫瘤；后鼻孔閉鎖；囟門晚閉；非癌性痣；多余的皮膚；大拇指；手關(guān)節(jié)攣縮；膝內(nèi)翻；低前發(fā)際線；短肋;異常形狀的椎骨;長(zhǎng)骨彎曲；先天性無腎；發(fā)育不良的腳趾；嚴(yán)重精神發(fā)育遲滯；極度智力障礙；肋骨異常;高而窄的上顎；皮膚超彈性；癌移行細(xì)胞；面部不對(duì)稱；多發(fā)性骨髓瘤;雙側(cè)單橫掌橫紋；身材高大；牙釉質(zhì)基質(zhì)缺陷；牙釉質(zhì)發(fā)育不全；牙釉質(zhì)發(fā)育不良;薄牙釉質(zhì)；腰椎前凸；侏儒癥；畸形耳廓；骨盆帶骨形態(tài)異常；凸鼻梁；徑向偏離的手指;顱骨畸形；眉毛不發(fā)達(dá)；眶上脊發(fā)育不全；反復(fù)性中耳炎；口干;黑色素細(xì)胞痣;顱縫早閉；寬大的前囟門；牙齒尺寸的牙弓長(zhǎng)度不足；牙齒擁擠；牙弓大小不一致；牙齒大小不一致；整體發(fā)育遲緩嚴(yán)重；嚴(yán)重的精神運(yùn)動(dòng)遲緩；干骺端異常；先天性小耳朵；手指并指；蛛形綱；小腦發(fā)育不全和萎縮；慢性中耳炎;平面；耳部感染慢性;狹窄的胸部;手短；前凸;胎動(dòng)減少；角度 2 級(jí)錯(cuò)牙合；角度 3 級(jí)錯(cuò)牙合；凸鼻梁；咬合不正；鴨嘴獸;突出的鼻梁；小梅利亞；骨骼發(fā)育異常；額頭寬闊；先天性斜指；數(shù)字曲率；體細(xì)胞突變；內(nèi)眥贅皮；上頜骨突出減少；上頜骨缺乏；上頜骨發(fā)育不全;上頜骨營(yíng)養(yǎng)不良；上頜后縮;上頜骨后縮；發(fā)育不全的腳；骨軟骨發(fā)育不良;齲齒;蛀牙;近端指間關(guān)節(jié)屈曲攣縮；孤立個(gè)案；關(guān)節(jié)過度靈活；唇裂；多汗癥;缺牙癥;出汗增多；出汗;羊水過多;短頭畸形；寬顱骨形狀；寬顱骨形狀；胼胝體發(fā)育不全；眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;嚴(yán)重智力低下（IQ 20-34）；退化性腦??；漏斗胸;高額頭;精神障礙；額頭高；認(rèn)知障礙；面部中部突出減少；中面部營(yíng)養(yǎng)不良；面中部后縮；中臉?。浑p側(cè)小指彎曲；小指彎曲；腦積水;膀胱腫瘤；脊柱后凸;脊柱后凸畸形；傳導(dǎo)性聽力損失；擴(kuò)張的心室（發(fā)現(xiàn)）；短指；呼吸功能喪失；營(yíng)養(yǎng)不良的顴骨;顴骨變平；新陳代謝/穩(wěn)態(tài)異常；呼吸功能不全；腎細(xì)胞癌；大顱骨;頭圍增加；顱骨體積增大；顱骨尺寸增大；電機(jī)延遲；沒有運(yùn)動(dòng)里程碑的發(fā)展；正面凸起；瞼裂向下傾斜；嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;腦萎縮；先天性耳聾；胎兒生長(zhǎng)遲緩；部分聽力損失；鼻孔前傾；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;結(jié)直腸腫瘤；上瞼下垂；軌道分離過度；隱睪;斜視；肥胖;后天性脊柱側(cè)凸；脊柱彎曲；感音神經(jīng)性聽力損失（障礙）；胃腫瘤；小頭;身材矮?。?a href='http://www.lucasfraser.com/cp/chabiyin/shenjin/2023/40917.html' target='_blank'>癲癇;肌肉張力減退；癲癇發(fā)作；認(rèn)知延遲；整體發(fā)育遲緩；智力和運(yùn)動(dòng)遲緩；智力遲鈍；智力低下；智力低下；精神缺陷；學(xué)習(xí)成績(jī)差；智力殘疾;常染色體隱性易感性

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

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容

GWAS基因檢測(cè)所解碼的該基因突變會(huì)增加風(fēng)險(xiǎn)的疾病種類（中文版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫(kù)的更新內(nèi)容

以該基因做靶點(diǎn)的藥物（國(guó)際版）：

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)

針對(duì)該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

Palifermin（蛋白質(zhì)酪氨酸激酶活性）；XL999（蛋白質(zhì)酪氨酸激酶活性）；Pazopanib（蛋白質(zhì)酪氨酸激酶活性）；Ponatinib（蛋白質(zhì)酪氨酸激酶活性）；Lenvatinib（蛋白質(zhì)酪氨酸激酶活性）；Nintedanib（蛋白質(zhì)酪氨酸激酶活性）