【佳学基因检测】ERCC2基因筛查有突变怎么办？

基因检测的序列名称：

ERCC2

人体基因序列变化与疾病表征数据库中的基因代码：

2068

人体基因序列数据库中国际交流名称全称

ERCC excision repair 2, TFIIH core complex helicase subunit

中国数据库中基因全称：

ERCC切除修复2，TFIIH核心复杂解旋酶亚基

基因检测报告英文版基因简介

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

基因突变所影响的基因信息

核苷酸切除修复途径是修复DNA损伤的机制。该基因编码的蛋白质参与转录偶联的核苷酸切除修复，并且是基础转录因子BTF2 / TFIIH复合体的组成部分。该基因产物具有ATP依赖的DNA解旋酶活性，属于解旋酶的RAD3 / XPD亚家族。该基因的缺陷可导致三种不同的疾病，即易患癌症的色素干皮症补充群D，毛发硫代营养不良和Cockayne综合征。已经发现该基因的编码不同同工型的剪接的转录变体。[由RefSeq提供，2008年8月]

国际国内该碱基基因序列的其他英语文字母简称：

COFS2, EM9, TFIIH, TTD, TTD1, XPD

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19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：45854649；结束位置坐标为：45873845。该基因序列在GRCh38版本中的起始位置坐标为：45349837；结束位置坐标为：45370647。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

Enzymes/ENZYME proteins/Hydrolases

基因解码对该基因的功能分类：中文版

酶/酶蛋白/水解酶

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）：

Nucleoplasm

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）：

核质

该基因序列变化后增加的疾病风险（国际版）：

Cerebrooculofacioskeletal Syndrome 2; Sunburn; Xeroderma Pigmentosum, Complementation Group D; Lack of subcutaneous fatty tissue; Photosensitive Trichothiodystrophy; CAMFAK syndrome; Cerebrooculofacioskeletal Syndrome 1; Numerous pigmented freckles; Pena Shokeir syndrome Type 2; Large beaked nose; Hardened artery wall; Trichothiodystrophy Syndromes; Defective DNA repair after ultraviolet radiation damage; Hyperkeratosis, Epidermolytic; Peripheral demyelinating neuropathy; Entropion; Xeroderma Pigmentosum; Abnormality of the face; Disorder of face; Arteriosclerosis; Occupational Diseases; Squamous cell carcinoma of skin; Conjunctival telangiectasis; Death in childhood; Poikiloderma; Prominent metopic ridge; Abnormal nasal morphology; Abnormality of immune system physiology; Congenital Nonbullous Ichthyosiform Erythroderma; Fragile nails; Spider Veins; Telangiectasis; Precociously senile appearance; Abnormality of the thorax; Intestinal Obstruction; Ectropion; Reactive airway disease; IgG Deficiency; Basal cell nevi; Hypoplasia of scrotum; Keratitis; Brittle hair; Exfoliative dermatitis; Fractured hair; Fragile hair; Papilloma; Reduced tensile strength of hair; Vertical Talus; Atrophic condition of skin; Choreoathetoid movements; Choreoathetosis; Freckles; Mental deterioration; Conjunctivitis; Conjunctivitis, recurrent; Progressive mental retardation; Skin Abnormalities; Telangiectasia of the skin; Hyperpigmented macules; Decreased to absent deep tendon reflexes; Hyperkeratosis; Global developmental delay, severe; Severe psychomotor retardation; Thin skin; Recurrent infections; Cerebellar hypoplasia and atrophy; Cerebral calcification; Basal cell carcinoma; Arthrogryposis; Everted lower lip vermilion; Protruding lower lip; Photosensitivity of skin; Cachexia; Retinal Diseases; Congenital anomaly of face; Erythema; Flushing; Kyphoscoliosis deformity of spine; hypopigmented skin patch; Dental abnormalities; Enophthalmos; Sunken eyes; Skin Neoplasms; Low Birth Weights; Small for gestational age (disorder); Tooth Abnormalities; Flexion contracture of proximal interphalangeal joint; Dry skin; Xerosis; Death in early childhood; Death in infancy; Joint stiffness; Muscle Hypertonia; Arthralgia; Contracture of joint; Flexion contracture; Flexion contractures of joints; Dermatologic disorders; Contracture; Abnormally small eyeball; Decreased size of eyeball; Asthma; Microphthalmos; 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; Mental impairment; Impaired cognition; Hydrocephalus; Bladder Neoplasm; Squamous cell carcinoma; Photodysphoria; Photophobia; Decreased tendon reflex; Hypogonadism; Fever; Short neck; Feeding difficulties in infancy; Low Vision; Visual Impairment; Infant, Small for Gestational Age; Intrauterine retardation; Congenital hypoplasia of penis; Cerebral atrophy; Congenital deafness; Fetal Growth Retardation; Hearing Loss, Partial; Fatigue; Deafness; Muscle Spasticity; hearing impairment; melanoma; Optic Atrophy; Lens Opacities; Colorectal Neoplasms; Broad flat nasal bridge; Nasal bridge wide; Cataract; Cerebellar Ataxia; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Sensorineural Hearing Loss (disorder); Stomach Neoplasms; Failure to gain weight; Pediatric failure to thrive; Small head; Prostatic Neoplasms; 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）：

脑面骨骼综合症 2型；晒斑;着色性干皮病补充组 D；缺乏皮下脂肪组织；光敏毛硫营养不良； CAMFAK 综合征；脑面骨骼综合症 2型；许多色素性雀斑； Pena Shokeir 综合征 2 型；大喙鼻；硬化的动脉壁；毛发硫营养不良综合征；紫外线照射损伤后DNA修复缺陷；角化过度表皮松解症；外周脱髓鞘性神经病；熵;色素干皮病；面部异常；面部疾病；动脉硬化;职业病；皮肤鳞状细胞癌；结膜毛细血管扩张症;童年死亡；皮肤异色症；突出的主题脊；鼻腔形态异常；免疫系统生理异常；先天性非大疱性鱼鳞病样红皮病；脆弱的指甲；蜘蛛静脉;毛细血管扩张;早熟衰老的外表；胸部异常;肠梗阻;外翻;反应性气道疾病； IgG 缺乏症；基底细胞痣；阴囊发育不全;角膜炎;脆弱的头发;剥脱性皮炎;头发断裂；脆弱的头发;乳头状瘤;头发的抗拉强度降低；垂直距骨；皮肤萎缩状况；舞蹈手足徐动症；舞蹈手足徐动症；雀斑；精神衰退；结膜炎;结膜炎反复发作；进行性智力低下；皮肤异常；皮肤毛细血管扩张;色素沉着斑；深腱反射减弱至消失；角化过度;整体发育迟缓严重；严重的精神运动迟缓；皮肤薄;反复感染；小脑发育不全和萎缩；脑钙化；基底细胞癌；关节挛缩症；外翻下唇朱红色；下唇突出；皮肤光敏性；恶病质；视网膜疾病；面部先天性异常；红斑;法拉盛；脊柱后凸畸形;色素减退的皮肤贴片；牙齿异常；眼球内陷；凹陷的眼睛；皮肤肿瘤；低出生体重；小于胎龄儿（疾病）；牙齿异常；近端指间关节屈曲挛缩；皮肤干燥;干燥症;童年早期死亡；婴儿期死亡；关节僵硬；肌肉张力亢进；关节痛;关节挛缩；屈曲挛缩；关节屈曲挛缩；皮肤病；挛缩;异常小的眼球；眼球变小；哮喘;小眼球;发育退化；失去发展里程碑；童年时期精神退化；神经发育退化；精神运动退化；婴儿期开始的精神运动退化；婴儿精神运动退化；精神运动性退化进行性；脑电图异常；精神障碍；认知障碍；脑积水;膀胱肿瘤；鳞状细胞癌;光烦躁；畏光;肌腱反射减弱；性腺机能减退；发烧;脖子短；婴儿喂养困难；低视力;视力障碍；婴儿小于胎龄儿；宫内发育迟缓;先天性阴茎发育不全；脑萎缩；先天性耳聋；胎儿生长迟缓；部分听力损失；疲劳;耳聋；肌肉痉挛；听力受损;黑色素瘤;视神经萎缩；晶状体混浊；结直肠肿瘤；宽扁的鼻梁；鼻梁宽；白内障;小脑性共济失调；隐睾;斜视；发育不全的下颌骨髁；下颌发育不全;小颌畸形；感音神经性听力损失（障碍）；胃肿瘤；未能增加体重；儿科发育不良；小头;前列腺肿瘤；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）：

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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）：

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针对该基因所产生的突变，可能有精准效果的药物（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