【佳学基因检测】爸爸基因评估分析发现GATA4突变，我需要做检测吗？

基因检测的序列名称：

GATA4

人体基因序列变化与疾病表征数据库中的基因代码：

2626

人体基因序列数据库中国际交流名称全称

GATA binding protein 4

中国数据库中基因全称：

GATA结合蛋白4

基因检测报告英文版基因简介

This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

基因突变所影响的基因信息

该基因编码锌指转录因子的GATA家族的成员。该家族的成员认识到存在于许多基因启动子中的GATA基序。该蛋白被认为可调节与胚胎发生，心肌分化和功能有关的基因，并且对于正常睾丸发育是必需的。该基因的突变与心脏间隔缺损有关。另外，基因表达的改变与几种癌症类型有关。选择性剪接导致多个转录物变体。[由RefSeq提供，2015年4月]

国际国内该碱基基因序列的其他英语文字母简称：

ASD2, TACHD, TOF, VSD1

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8号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：11534433；结束位置坐标为：11617510。该基因序列在GRCh38版本中的起始位置坐标为：11676919；结束位置坐标为：11760002。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Transcription factors/Zinc-coordinating DNA-binding domains

基因解码对该基因的功能分类：中文版

转录因子/锌配位 DNA 结合域

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）：

Nuclear bodies

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）：

核体

该基因序列变化后增加的疾病风险（国际版）：

ATRIOVENTRICULAR SEPTAL DEFECT 4; Atrial septal defect 2; Chromosome 8, monosomy 8p23 1; TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; VENTRICULAR SEPTAL DEFECT 1; Ostium primum atrial septal defect; Hypospadias, perineal; Partial atrioventricular canal; Small penis; Abnormality of the labia; Abnormality of the scrotum; Ostium secundum atrial septal defect; Testicular dysgenesis; Testicular regression syndrome; Abnormal sex determination; Female external genitalia in males; Elevated luteinizing hormone; Hypoplasia of vagina; Rudimentary vagina; Elevated follicle stimulating hormone; Streak ovary; Urogenital sinus anomaly; Abnormal nasal morphology; ATRIOVENTRICULAR CANAL DEFECT; Endocardial Cushion Defects; Enlarged thorax; Gonadal Dysgenesis, Mixed; Pure gonadal dysgenesis; Decreased fertility in females; Gonadal Dysgenesis; Pulmonary artery stenosis; ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder); Low serum estradiol levels; Ambiguous Genitalia; Tapering fingers (finding); Preauricular dimple; Preauricular sinus; Biparietal narrowing; Decreased testosterone in males; Decreased width of the skull; Preauricular Fistulae, Congenital; Sparse axillary hair; Sparse pubic hair; Azoospermia; Primary hypogonadism; Malformed pinnae; Poor speech; Problems speaking; Congenital diaphragmatic hernia; Underdeveloped brows; Underdeveloped supraorbital ridges; Hypertrophy of clitoris; Diaphragmatic Hernia; Tetralogy of Fallot; Wide spaced nipples; Thin lips; Primary physiologic amenorrhea; Gynecomastia; Broad forehead; Male infertility; Mild Mental Retardation; Small testicle; Long narrow head; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; Atrial Septal Defects; Delayed Puberty; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; High forehead; Tall forehead; Weight decreased; Myocardial Infarction; Penile hypospadias; Bilateral fifth finger clinodactyly; Curvature of little finger; Cardiomegaly; Attention deficit hyperactivity disorder; Ventricular Septal Defects; Brachydactyly; Short nose; Small nose; Short neck; Osteoporosis; Infant, Small for Gestational Age; Intrauterine retardation; Congenital Epicanthus; Congenital hypoplasia of penis; Low set ears; Fetal Growth Retardation; Byzanthine arch palate; Colorectal Neoplasms; Broad flat nasal bridge; Nasal bridge wide; Cryptorchidism; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Alcoholic Intoxication, Chronic; Small head; Short stature; Epilepsy; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation

如果该基因突变后，风险可能增加的疾病类型（中文版）：

房室间隔缺损 2型；房间隔缺损 2型； 8号染色体单体8p23 2型；伴有或不伴有先天性心脏病的睾丸异常；室间隔缺损 2型；原发孔房间隔缺损；尿道下裂会阴;部分房室管；小阴茎；阴唇异常；阴囊异常;继发孔房间隔缺损；睾丸发育不全;睾丸退化综合征；性别决定异常；男性的女性外生殖器；黄体生成素升高；阴道发育不全;不完整的阴道；卵泡刺激素升高；条纹卵巢;泌尿生殖窦异常；鼻腔形态异常；房室管缺陷；心内膜垫缺损；胸部扩大；性腺发育不全混合；纯性腺发育不全；女性生育能力下降；性腺发育不全；肺动脉狭窄；家族性心房颤动1（紊乱）；低血清雌二醇水平；不明确的生殖器；逐渐变细的手指（发现）；耳前酒窝;耳前窦;双顶骨变窄；男性睾丸激素减少;颅骨宽度减小；先天性耳前瘘；稀疏的腋毛；阴毛稀疏；无精子症；原发性性腺功能减退症；畸形耳廓；口齿不清；说话有问题；先天性膈疝;眉毛不发达；眶上脊发育不全；阴蒂肥大;膈疝;法洛四联症；宽间距乳头；薄嘴唇;原发性生理性闭经；男性乳房发育症;额头宽阔；男性不育症；轻度智力低下；小睾丸；长而窄的头；狭窄的颅骨形状；窄头型；狭窄的颅骨形状； Turridolicochephaly;房间隔缺损；青春期延迟；眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;高额头;额头高；体重下降；心肌梗塞；阴茎尿道下裂;双侧小指弯曲；小指弯曲；心脏肥大；注意力缺陷多动障碍；室间隔缺损；短指；鼻子短；小鼻子;脖子短；骨质疏松症；婴儿小于胎龄儿；宫内发育迟缓;先天性内眦赘皮；先天性阴茎发育不全；低位耳朵；胎儿生长迟缓；拜占庭拱形上颚；结直肠肿瘤；宽扁的鼻梁；鼻梁宽；隐睾;发育不全的下颌骨髁；下颌发育不全;小颌畸形；酒精中毒慢性；小头;身材矮小；癫痫;癫痫发作；认知延迟；整体发育迟缓；智力和运动发育迟缓

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）：

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

针对该基因所产生的突变，可能有正确效果的药物（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