【佳学基因检测】染色体分子诊断ATRX存在突变，如何理解？

基因检测的序列名称：

ATRX

人体基因序列变化与疾病表征数据库中的基因代码：

546

人体基因序列数据库中国际交流名称全称

ATRX chromatin remodeler

中国数据库中基因全称：

ATRX染色质重塑剂

基因检测报告英文版基因简介

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]

基因突变所影响的基因信息

该基因编码的蛋白质包含ATPase /解旋酶结构域，因此属于染色质重塑蛋白质的SWI / SNF家族。发现该蛋白经历细胞周期依赖性磷酸化，调节其核基质和染色质缔合，并暗示其参与有丝分裂的相间和染色体分离的基因调节。该基因的突变与表现出认知障碍的X连锁综合征以及α地中海贫血（ATRX）综合征有关。这些突变已被证明可引起DNA甲基化模式的多种变化，这可能在染色质重塑，DNA甲基化和发育过程中的基因表达之间提供联系。已经报道了编码不同同工型的多个交替剪接的转录变体。[由RefSeq提供，2017年7月]

国际国内该碱基基因序列的其他英语文字母简称：

JMS, MRX52, RAD54, RAD54L, XH2, XNP, ZNF-HX

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：76760356；结束位置坐标为：77041755。该基因序列在GRCh38版本中的起始位置坐标为：77504878；结束位置坐标为：77786269。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;Transcription factors/Zinc-coordinating DNA-binding domains

基因解码对该基因的功能分类：中文版

酶/酶蛋白/水解酶；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）：

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; Abnormality of fontanelles; Alpha-Thalassemia Myelodysplasia Syndrome; Juberg-Marsidi syndrome; Mental retardation Smith Fineman Myers type; Triangular nasal tip; Lower limb hypertonia; Paroxysmal bursts of laughter; U-Shaped upper lip vermilion; Central incisor gap; Diastema between maxillary central incisors; Hemoglobin H Disease; Penile Diseases; Perimembranous ventricular septal defect; Wide upper central incisors; Reduced alpha/beta synthesis ratio; Thoracic Diseases; Slender fingers; Talipes Calcaneovalgus; Short upper lip; Absent frontal sinuses; Aplasia of frontal sinus; Abnormal hemoglobin finding; Shawl scrotum; Abnormality of blood and blood-forming tissues; Abnormality of the haematopoietic system; Microcytic hypochromic anemia (disorder); Neuroendocrine Tumors; Protrusion of tongue; Infantile muscular hypotonia; Iron-Refractory Iron Deficiency Anemia; Profound global developmental delay; Psychomotor retardation, profound; Hematological Disease; Hypoplastic myelodysplasia; Inverted V-shaped upper lip; Male Pseudohermaphroditism; Tented mouth; Tented upper lip; Coxa valga; Coxa valga deformity; Dysphasia; Mental Retardation, X-Linked; Ambiguous Genitalia; Hypoplasia of scrotum; Congenital hemivertebra; Exotropia; Tapering fingers (finding); Drooling; Sialorrhea; Congenital absence of kidney; Congenital hypoplasia of kidney; Growth Disorders; Vesico-Ureteral Reflux; MYELODYSPLASTIC SYNDROME; Narrow forehead; Progressive mental retardation; Radially deviated fingers; Open mouth; Congenital small ears; Neutrophil count decreased; Depressed nasal ridge; Neuroblastoma; Flat face; Everted lower lip vermilion; Protruding lower lip; Knee joint valgus deformity; Postnatal growth retardation; X-linked dominant; Congenital clinodactyly; Curvature of digit; Kyphoscoliosis deformity of spine; Posteriorly rotated ear; Telecanthus; Full lower lip; Prominent lower lip; Ecchymosis; Increased tendency to bruise; Macroglossia; Hydronephrosis; Dyspnea; Thin upper lip vermilion; Acquired flat foot; Flatfoot; Macrostomia; Upward slant of palpebral fissure; Heartburn; Small testicle; Glioma; Long narrow head; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; Umbilical hernia; Gastroesophageal reflux disease; Pancreatic Neoplasm; Hyperactive behavior; Supratentorial atrophy; Severe mental retardation (I.Q. 20-34); Adenoid Cystic Carcinoma; Degenerative brain disorder; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Penile hypospadias; Coarse facial features; Thickened facial skin with coarse facial features; Congenital clubfoot; X- linked recessive; Decreased platelet count; Vomiting; Hypogonadism; Brachydactyly; Hypotrophic malar bone; Malar flattening; Thrombocytopenia; Short nose; Small nose; Abnormality of metabolism/homeostasis; Delayed bone age; Dyschezia; Short neck; Constipation; Craniofacial Abnormalities; Highly variable clinical phenotype; Highly variable phenotype and severity; Highly variable phenotype, even within families; Phenotypic variability; Congenital Epicanthus; Congenital hypoplasia of penis; Low set ears; Cerebral atrophy; Anteverted nostril; Fatigue; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Muscle Spasticity; Hyperreflexia; Optic Atrophy; Broad flat nasal bridge; Nasal bridge wide; Blepharoptosis; Orbital separation excessive; Cryptorchidism; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Autistic Disorder; Sensorineural Hearing Loss (disorder); 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

如果该基因突变后，风险可能增加的疾病类型（中文版）：

α-地中海贫血/智力迟钝综合症非缺失型X 连锁；囟门异常； α-地中海贫血骨髓增生异常综合征； Juberg-Marsidi 综合征；精神发育迟滞 Smith Fineman Myers 型；三角形鼻尖；下肢肌张力亢进；阵发性的笑声； U型上唇朱红色；中切牙间隙；上颌中切牙之间的间隙；血红蛋白 H 病；阴茎疾病；膜周室间隔缺损；宽大的上中切牙；降低 alpha/beta 合成比率；胸部疾病；纤细的手指；跟骨马蹄足；上唇短；没有额窦；额窦发育不全;异常血红蛋白发现；披肩阴囊;血液和造血组织异常；造血系统异常;小细胞性低色素性贫血（病症）；神经内分泌肿瘤；舌头突出;婴儿肌张力减退症;铁-难治性缺铁性贫血；严重的全球发育迟缓；精神运动迟缓严重；血液病；发育不良性骨髓增生异常;倒V型上唇；男性假两性畸形；帐篷的嘴巴；帐篷状的上唇；髋外翻；髋外翻畸形；言语困难；智力低下X 连锁；不明确的生殖器；阴囊发育不全;先天性半椎体；外斜视；逐渐变细的手指（发现）；流口水；流涎；先天性无肾；先天性肾发育不全；生长障碍；膀胱输尿管反流；骨髓增生异常综合症;额头窄；进行性智力低下；径向偏离的手指;张开嘴;先天性小耳朵；中性粒细胞计数减少；鼻梁凹陷；成神经细胞瘤;平面；外翻下唇朱红色；下唇突出；膝关节外翻畸形；产后发育迟缓； X连锁显性；先天性斜指；数字曲率；脊柱后凸畸形;向后旋转的耳朵；内眦赘皮；饱满的下唇；突出的下唇；瘀斑;瘀伤倾向增加；巨舌症；肾积水;呼吸困难；薄上唇朱红色；后天性扁平足；扁平足;巨口症；睑裂向上倾斜；胃灼热;小睾丸；神经胶质瘤；长而窄的头；狭窄的颅骨形状；窄头型；狭窄的颅骨形状； Turridolicochephaly;脐疝;胃食管反流病;胰腺肿瘤；多动行为；幕上萎缩；严重智力低下（IQ 20-34）；腺样囊性癌；退化性脑病；面部中部突出减少；中面部营养不良；面中部后缩；中脸小；阴茎尿道下裂;粗糙的面部特征；面部皮肤增厚五官粗糙；先天性马蹄内翻足； X连锁隐性；血小板计数减少；呕吐；性腺机能减退；短指；营养不良的颧骨;颧骨变平；血小板减少症;鼻子短；小鼻子;新陈代谢/稳态异常；骨龄延迟；排便困难；脖子短；便秘;颅面异常；高度可变的临床表型；高度可变的表型和严重程度；高度可变的表型即使在家庭内部也是如此；表型变异性；先天性内眦赘皮；先天性阴茎发育不全；低位耳朵；脑萎缩；鼻孔前倾；疲劳;拜占庭拱形上颚；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；肌肉痉挛；反射亢进；视神经萎缩；宽扁的鼻梁；鼻梁宽；上睑下垂；轨道分离过度；隐睾;发育不全的下颌骨髁；下颌发育不全;小颌畸形；自闭症；感音神经性听力损失（障碍）；小头;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

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