【佳学基因检测】结婚前发现男朋友有DHCR7基因突变，是否应当分手？

基因检测的序列名称：

DHCR7

人体基因序列变化与疾病表征数据库中的基因代码：

1717

人体基因序列数据库中国际交流名称全称

7-dehydrocholesterol reductase

中国数据库中基因全称：

7-脱氢胆固醇还原酶

基因检测报告英文版基因简介

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

基因突变所影响的基因信息

该基因编码一种酶，该酶去除固醇B环中的C（7-8）双键，并催化7-脱氢胆固醇向胆固醇的转化。该基因无处不在表达，其跨膜蛋白定位于内质网膜和核外膜。该基因的突变会导致史密斯-莱姆利-奥普兹综合征（SLOS）；在代谢上以血清胆固醇水平降低和血清7-脱氢胆固醇水平升高为特征的综合征，在表型上以认知障碍，面部畸形，第二和第三脚趾的综合症以及全脑畸形为特征，在严重的情况下身体异常和智力几乎处于正常水平轻度病例。选择性剪接导致多个转录变体编码相同的蛋白质。[由RefSeq提供，2009年8月]

国际国内该碱基基因序列的其他英语文字母简称：

SLOS

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11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：71145457；结束位置坐标为：71159477。该基因序列在GRCh38版本中的起始位置坐标为：71434411；结束位置坐标为：71448431。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/Oxidoreductases

基因解码对该基因的功能分类：中文版

酶/酶蛋白/氧化还原酶

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）：

Cytosol;Endoplasmic reticulum

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）：

胞质溶胶；内质网

该基因序列变化后增加的疾病风险（国际版）：

7-Dehydrocholesterol Reductase Deficiency; Elevated 7-dehydrocholesterol; Severe photosensitivity; Smith-Lemli-Opitz Syndrome; Facial capillary hemangioma; Broad alveolar processes of jaw; Broad alveolar ridges; Cholestatic liver disease; Septate vagina; Gastrointestinal dysmotility; Sleep-wake cycle disturbance; Abnormality of the larynx; Hypocholesterolemia; Increased nuchal translucency; Periventricular neuronal heterotopia; Talipes Calcaneovalgus; Obstruction of pelviureteric junction; Frontal lobe hypoplasia; Tracheal Stenosis; Abnormal lung lobation; Breech Presentation; Microglossia; Overriding toe; Small tongue; Bicornuate uterus; Metabolic Bone Disorder; Fibular polydactyly; Postaxial foot polydactyly; Self-Injurious Behavior; Self Mutilation; Somnolence; Bifid scrotum; Congenital malrotation of intestine; ATRIOVENTRICULAR CANAL DEFECT; Abnormality of the metacarpal bones; Endocardial Cushion Defects; Holoprosencephaly; Proximally placed thumbs; Poor suck; Hammer Toe; Simple syndactyly of toes, first web space; Abnormal dermatoglyphic pattern; Ambiguous Genitalia; Hypoplasia of scrotum; Metatarsus Varus; Toeing-in; Hypoplasia of thumb; Precocious Puberty; Biparietal narrowing; Decreased width of the skull; Stippled epiphyses; Megacolon; Aortic coarctation; Cystic kidney; Renal cyst; Congenital absence of kidney; Dandy-Walker Syndrome; Hypoplastic toes; Congenital hypoplasia of kidney; Cutis marmorata; Gingival Overgrowth; Gingival Hypertrophy; Gingival Hyperplasia; Narrow forehead; Pyloric Stenosis; Generalized hypotonia; Hirschsprung Disease; Hypertrophy of clitoris; Recurrent otitis media; Eczema; Inadequate arch length for tooth size; Tooth Crowding; Tooth mass arch size discrepancy; Tooth size discrepancy; Wide spaced nipples; Ulnar polydactyly of fingers; Congenital hypoplasia of lung; Recurrent infections; Cerebellar hypoplasia and atrophy; Photosensitivity of skin; Reduced fetal movement; Micromelia; Dental abnormalities; Posteriorly rotated ear; Premature birth of newborn; Hydronephrosis; Tooth Abnormalities; Macrostomia; Aggressive behavior; Aggressive reaction; Heartburn; Physical aggression; Premature Birth; Patent ductus arteriosus; Gastroesophageal reflux disease; Polyhydramnios; Atrial Septal Defects; Muscle Hypertonia; Hypoplasia of corpus callosum; Hyperactive behavior; Penile hypospadias; Low-set, posteriorly rotated ears; Hydrocephalus; Vomiting; Attention deficit hyperactivity disorder; Ventricular Septal Defects; Dilated ventricles (finding); Long philtrum; Dyschezia; Liver Cirrhosis; Short neck; Constipation; Uranostaphyloschisis; Feeding difficulties in infancy; Infant, Small for Gestational Age; Intrauterine retardation; Congenital Epicanthus; Congenital hypoplasia of penis; Low set ears; Congenital deafness; Fetal Growth Retardation; Hearing Loss, Partial; Anteverted nostril; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Cleft Palate; hearing impairment; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Blepharoptosis; Cataract; Orbital separation excessive; Cryptorchidism; Strabismus; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Autistic Disorder; Nystagmus; Failure to gain weight; Pediatric failure to thrive; 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; 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）：

7-脱氢胆固醇还原酶缺乏症；升高的 7-脱氢胆固醇；严重的光敏性； Smith-Lemli-Opitz 综合症；面部毛细血管瘤；宽阔的下颌牙槽突；宽阔的牙槽嵴；胆汁淤积性肝病；隔膜阴道;胃肠动力障碍;睡眠-觉醒周期障碍；喉部异常;低胆固醇血症;增加颈部半透明层；脑室周围神经元异位；跟骨马蹄足；肾盂输尿管连接处阻塞；额叶发育不全;气管狭窄；肺分叶异常；臀位展示；小舌头；压倒脚趾；小舌头；双角子宫；代谢性骨病；腓骨多指；后轴足多指；自残行为；自残；嗜睡；双歧阴囊;先天性肠旋转不良；房室管缺陷；掌骨异常;心内膜垫缺损；全脑畸形；拇指放在近端；吸力差；锤状趾;简单的脚趾并指第一个网页空间；异常的皮纹图案；不明确的生殖器；阴囊发育不全;跖骨内翻；前束；拇指发育不全；性早熟；双顶骨变窄；颅骨宽度减小；点状骨骺；巨结肠;主动脉缩窄；囊性肾;肾囊肿；先天性无肾；花花公子沃克综合症；发育不良的脚趾；先天性肾发育不全；橘皮；牙龈增生；牙龈肥大；牙龈增生；额头窄；幽门狭窄；广泛性肌张力减退；先天性巨结肠症；阴蒂肥大;复发性中耳炎；湿疹;牙齿尺寸的牙弓长度不足；牙齿拥挤；牙弓大小不一致；牙齿大小不一致；宽间距乳头；手指尺骨多指；先天性肺发育不全；反复感染；小脑发育不全和萎缩；皮肤光敏性；胎动减少；小梅利亚；牙齿异常；向后旋转的耳朵；新生儿早产；肾积水;牙齿异常；巨口症；攻击性行为；攻击性反应；胃灼热;身体攻击；早产；动脉导管未闭；胃食管反流病;羊水过多;房间隔缺损；肌肉张力亢进；胼胝体发育不全；多动行为；阴茎尿道下裂;位置低、向后旋转的耳朵；脑积水;呕吐；注意力缺陷多动障碍；室间隔缺损；扩张的心室（发现）；长人中；排便困难；肝硬化；脖子短；便秘; Uranostaphyloschisis;婴儿喂养困难；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；先天性耳聋；胎儿生长迟缓；部分听力损失；鼻孔前倾；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聋；腭裂；听力受损;晶状体混浊；宽扁的鼻梁；鼻梁宽；上睑下垂；白内障;轨道分离过度；隐睾;斜视；发育不全的下颌骨髁；下颌发育不全;小颌畸形；自闭症；眼球震颤；未能增加体重；儿科发育不良；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;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）：

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）：

NADH (7-dehydrocholesterol reductase activity)

针对该基因所产生的突变，可能有精准效果的药物（中文版）：

NADH（7-脱氢胆固醇还原酶活性）