【佳學(xué)基因檢測(cè)】染色體疾病風(fēng)險(xiǎn)評(píng)估FOXG1存在突變，如何理解？

基因檢測(cè)的序列名稱：

FOXG1

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2290

人體基因序列數(shù)據(jù)庫中國(guó)際交流名稱全稱

forkhead box G1

中國(guó)數(shù)據(jù)庫中基因全稱：

叉頭盒G1

基因檢測(cè)報(bào)告英文版基因簡(jiǎn)介

This locus encodes a member of the forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with Rett syndrome. [provided by RefSeq, Feb 2012]

基因突變所影響的基因信息

該基因座編碼叉頭轉(zhuǎn)錄因子家族的成員。編碼的蛋白起阻遏作用，可能在大腦發(fā)育中起作用。該基因座的突變與Rett綜合征有關(guān)。[由RefSeq提供，2012年2月]

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

BF1, BF2, FHKL3, FKH2, FKHL1, FKHL2, FKHL3, FKHL4A, FOXG1B, FOXG1C, HBF-1, HBF-2, HBF-3, HBF-G2, HBF2, HFK1, HFK2, HFK3, KHL2, QIN, FOXG1

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14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：29236278；結(jié)束位置坐標(biāo)為：29239483。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：28767072；結(jié)束位置坐標(biāo)為：28770277。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

Transcription factors/Helix-turn-helix domains

基因解碼對(duì)該基因的功能分類：中文版

轉(zhuǎn)錄因子/螺旋-轉(zhuǎn)角-螺旋結(jié)構(gòu)域

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）：

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)庫的更新內(nèi)容

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）：

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)庫的更新內(nèi)容

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

FOXG1 syndrome; Tongue thrusting; Bruxism; Acrocallosal Syndrome; Rett Syndrome, Atypical; Abnormality of the antitragus; Rett Syndrome; Abnormality of the antihelix; Edema of eyelid; Poor eye contact; Prominent metopic ridge; Athetosis; Dyskinetic syndrome; Abnormality of the metacarpal bones; Cortical gyral simplification; Inverted V-shaped upper lip; Tented mouth; Tented upper lip; Delayed myelination; Thick vermilion border; Microcephaly; Apraxias; Drooling; Choreatic disease; Sialorrhea; Chorea; Nephrolithiasis; Progressive microcephaly; Wide nose; Stereotyped Behavior; Stereotypic Movement Disorder; Pachygyria; Absent speech; Fine hair; Smooth philtrum; nonverbal; Bulbous nasal tip; Bulbous nose; Potato nose; Cerebellar hypoplasia and atrophy; Thin hypoplastic alae nasi; Abnormality of the fingernails; nervous system disorder; Everted lower lip vermilion; Protruding lower lip; Blepharophimosis; Prominent ear; Protruding ears; Movement Disorders; Neonatal Hypotonia; Macroglossia; Acquired flat foot; Flatfoot; Macrostomia; Flexion contracture of proximal interphalangeal joint; Isolated cases; Heartburn; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; mandibular excess (physical finding); Gastroesophageal reflux disease; Agenesis of corpus callosum; Hypoplasia of corpus callosum; Severe mental retardation (I.Q. 20-34); Developmental regression; Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive; Electroencephalogram abnormal; Dystonic disease; Bilateral fifth finger clinodactyly; Congenital clubfoot; Curvature of little finger; Growth delay; Growth failure; Growth retardation; Hyperkyphosis; Poor growth; Very poor growth; Dystonia; Kyphosis deformity of spine; Dilated ventricles (finding); Feeding difficulties; Short nose; Small nose; Long philtrum; Dyschezia; Constipation; Motor delay; No development of motor milestones; Downward slant of palpebral fissure; Congenital Epicanthus; Cerebral atrophy; Congenital deafness; Hearing Loss, Partial; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Muscle Spasticity; hearing impairment; Acquired scoliosis; Curvature of spine; Small head; Epilepsy; Muscle hypotonia; Seizures; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability

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

FOXG1 綜合征；吐舌頭；磨牙癥;肢端胼胝體綜合征； Rett 綜合癥非典型；耳屏異常;雷特綜合癥；反螺旋異常；眼瞼水腫;目光接觸不良；突出的主題脊；手足徐動(dòng)癥；運(yùn)動(dòng)障礙綜合征;掌骨異常;皮質(zhì)回簡(jiǎn)化；倒V型上唇；帳篷的嘴巴；帳篷狀的上唇；髓鞘形成延遲；厚朱紅色邊框；小頭畸形；失用癥；流口水；舞蹈??；流涎；舞蹈??；腎結(jié)石;進(jìn)行性小頭畸形；寬鼻子；刻板行為；刻板運(yùn)動(dòng)障礙；巨腦回;缺席演講；細(xì)毛；光滑的人中；非語言的；球狀鼻尖；球鼻；土豆鼻子；小腦發(fā)育不全和萎縮；薄型發(fā)育不全的鼻翼；指甲異常；神經(jīng)系統(tǒng)紊亂；外翻下唇朱紅色；下唇突出；眼瞼病;突出的耳朵；突出的耳朵;運(yùn)動(dòng)障礙；新生兒肌張力減退；巨舌癥；后天性扁平足；扁平足;巨口癥；近端指間關(guān)節(jié)屈曲攣縮；孤立個(gè)案；胃灼熱; III 類咬合不正；下頜肥大;下頜骨增大；下頜骨增生;下頜過長(zhǎng)（物理發(fā)現(xiàn)）；胃食管反流病;胼胝體發(fā)育不全；胼胝體發(fā)育不全；嚴(yán)重智力低下（IQ 20-34）；發(fā)育退化；失去發(fā)展里程碑；童年時(shí)期精神退化；神經(jīng)發(fā)育退化；精神運(yùn)動(dòng)退化；嬰兒期開始的精神運(yùn)動(dòng)退化；嬰兒精神運(yùn)動(dòng)退化；精神運(yùn)動(dòng)性退化進(jìn)行性；腦電圖異常；肌張力障礙疾??；雙側(cè)小指彎曲；先天性馬蹄內(nèi)翻足；小指彎曲；生長(zhǎng)延遲；生長(zhǎng)失敗；生長(zhǎng)遲緩；脊柱后凸;生長(zhǎng)不良；生長(zhǎng)非常差；肌張力障礙；脊柱后凸畸形；擴(kuò)張的心室（發(fā)現(xiàn)）；進(jìn)食困難；鼻子短；小鼻子;長(zhǎng)人中；排便困難；便秘;電機(jī)延遲；沒有運(yùn)動(dòng)里程碑的發(fā)展；瞼裂向下傾斜；先天性內(nèi)眥贅皮；腦萎縮；先天性耳聾；部分聽力損失；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聾；肌肉痙攣；聽力受損;后天性脊柱側(cè)凸；脊柱彎曲；小頭;癲癇;肌肉張力減退；癲癇發(fā)作；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

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)庫的更新內(nèi)容

以該基因做靶點(diǎn)的藥物（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)庫的更新內(nèi)容

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）：

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)庫的更新內(nèi)容