【佳學(xué)基因檢測】分子診斷前為什么要問分子診斷機(jī)構(gòu)是否包含EYA1基因？

基因檢測的序列名稱：

EYA1

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2138

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

EYA transcriptional coactivator and phosphatase 1

中國數(shù)據(jù)庫中基因全稱：

EYA轉(zhuǎn)錄共激活因子和磷酸酶1

基因檢測報告英文版基因簡介

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]

基因突變所影響的基因信息

該基因編碼不存在眼的蛋白質(zhì)（EYA）家族的成員。編碼的蛋白質(zhì)可能在發(fā)育中的腎臟，branch弓，眼睛和耳朵中起作用。該基因的突變與支氣管腎發(fā)育不良綜合癥，支氣管綜合癥以及先天性白內(nèi)障和眼前節(jié)異常的零星病例有關(guān)。小鼠中類似的蛋白質(zhì)可以充當(dāng)轉(zhuǎn)錄激活因子。已經(jīng)為該基因鑒定了剪接的轉(zhuǎn)錄物變體。[由RefSeq提供，2013年12月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

BOP, BOR, BOS1, OFC1

基因解碼對該基因序列在細(xì)胞核中的染色體所給予的編號：

該基因序列位于人類第8號染色體上。

基因解碼對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：72109668；結(jié)束位置坐標(biāo)為：72459888。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：71197433；結(jié)束位置坐標(biāo)為：71548130。正確的基因信息定位是基因檢測和對檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對該基因的功能分類：國際版

Enzymes/ENZYME proteins/Hydrolases

基因解碼對該基因的功能分類：中文版

酶/酶蛋白/水解酶

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)揮作用的場所（國際版）：

Nuclear bodies;Nucleoplasm

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）：

核體；核質(zhì)

該基因序列變化后增加的疾病風(fēng)險（國際版）：

Otofaciocervical Syndrome; Abnormal collecting system; Asymmetric crying face association; BRANCHIOOTIC SYNDROME 1; Cholesteatoma; Enlarged cochlear aqueduct; Fara Chlupackova syndrome; Fistula of branchial cleft; Gustatory lacrimation; Malrotation of kidney; Abnormality of the cerebrum; Branchioma; Euthyroid Goiter; Incomplete partition of the cochlea type II; Long neck; Malformed ossicles; Mondini malformation; Branchio-Oto-Renal Syndrome; Deep overbite; Overbite; Posterior lingual occlusion of mandibular teeth; Renal steatosis; Bulbous internal auditory canal; Cochlear malformation; Middle ear malformations; Hypoplastic cochlea; Renal hypoplasia/aplasia; Abnormality of the antihelix; Congenital Abnormality; Hearing Loss, Mixed Conductive-Sensorineural; Narrowing of ear canal; Stenosis of external auditory canal; Abnormality of the clavicle; Congenital malrotation of intestine; Capuchin ears; Cupped ears (finding); Polycystic Kidney - body part; Preauricular skin tag; Skin tag on the posterior cheek; Polycystic Kidney Diseases; Sloping shoulders; Absent auditory canals; Absent external auditory canals; Atresia of the external auditory canal; Atretic auditory canal; Narrow nose; Scapular weakness; Winged scapula; Abnormal dermatoglyphic pattern; RENAL ADYSPLASIA; Renal dysplasia; Cleft uvula; Preauricular dimple; Preauricular sinus; Preauricular Fistulae, Congenital; Congenital absence of kidney; Vesico-Ureteral Reflux; Malformed pinnae; Congenital small ears; Hip Dislocation, Congenital; Chubby cheeks; Full cheeks; Hyperplasia of cheeks; Hypertrophy of cheeks; Puffy cheeks; Narrow face; Thin face; Retrognathia; Prominent ear; Protruding ears; Congenital Heart Defects; Decreased width of tooth; Microdontia (disorder); Speech Disorders; Decreased size of teeth; Long face; Mild Mental Retardation; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Muscle Hypertonia; Conductive hearing loss; Delayed bone age; Craniofacial Abnormalities; Highly variable severity; Variable expressivity; Uranostaphyloschisis; 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; Hyperreflexia; Sensorineural Hearing Loss (disorder); Short stature; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability

如果該基因突變后，風(fēng)險可能增加的疾病類型（中文版）：

耳面頸綜合征；采集系統(tǒng)異常；不對稱的哭臉聯(lián)想；支氣管綜合癥 2型；膽脂瘤;擴(kuò)大的耳蝸導(dǎo)水管； Fara Chlupackova 綜合癥；鰓裂瘺；味覺流淚；腎臟旋轉(zhuǎn)不良；大腦異常;鰓瘤;甲狀腺腫大； II 型耳蝸分割不全；長頸;畸形的小骨;蒙迪尼畸形；鰓-耳-腎綜合征；深覆合；覆合；下頜牙齒的后舌咬合；腎脂肪變性；球狀內(nèi)耳道；耳蝸畸形；中耳畸形；發(fā)育不良的耳蝸;腎發(fā)育不全/發(fā)育不全；反螺旋異常；先天性異常；聽力損失混合傳導(dǎo)-感覺神經(jīng)性；耳道變窄；外耳道狹窄；鎖骨異常;先天性腸旋轉(zhuǎn)不良；卷尾猴的耳朵；杯狀耳朵（發(fā)現(xiàn)）；多囊腎 - 身體部位；耳前皮贅；臉頰后部的皮膚標(biāo)簽；多囊腎??；傾斜的肩膀;沒有耳道；沒有外耳道；外耳道閉鎖;聽道閉鎖；窄鼻子；肩胛無力；翼狀肩胛;異常的皮紋圖案；腎發(fā)育不良；腎發(fā)育不良;懸雍垂裂；耳前酒窩;耳前竇;先天性耳前瘺；先天性無腎；膀胱輸尿管反流；畸形耳廓；先天性小耳朵；髖關(guān)節(jié)脫位先天性；胖嘟嘟的臉頰;飽滿的臉頰；臉頰增生;臉頰肥大;浮腫的臉頰；窄臉；瘦臉;后頜畸形；突出的耳朵；突出的耳朵;先天性心臟缺陷；牙齒寬度減??；小牙癥（疾?。?；言語障礙；牙齒變?。焕L著臉;輕度智力低下；大耳廓；發(fā)育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松軟的耳朵； Macrotia;肌肉張力亢進(jìn)；傳導(dǎo)性聽力損失；骨齡延遲；顱面異常；高度可變的嚴(yán)重性；可變表現(xiàn)力； Uranostaphyloschisis;低位耳朵；先天性耳聾；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;反射亢進(jìn)；感音神經(jīng)性聽力損失（障礙）；身材矮??；認(rèn)知延遲；整體發(fā)育遲緩；智力和運動遲緩；智力遲鈍；智力低下；智力低下；精神缺陷；學(xué)習(xí)成績差；智力殘疾

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

Sleep

GWAS基因檢測所解碼的該基因突變會增加風(fēng)險的疾病種類（中文版）：

睡覺

以該基因做靶點的藥物（國際版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及時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，請關(guān)注佳學(xué)基因，獲得及時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