【佳学基因检测】妈妈分子病理检测存在COL11A2突变，我会受到什么影响？

基因检测的序列名称：

COL11A2

人体基因序列变化与疾病表征数据库中的基因代码：

1302

人体基因序列数据库中国际交流名称全称

collagen type XI alpha 2 chain

中国数据库中基因全称：

XI型胶原蛋白alpha 2链

基因检测报告英文版基因简介

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]

基因突变所影响的基因信息

该基因编码XI型胶原（一种次要纤维状胶原）的两条α链之一。它位于6号染色体上，非常接近但与类视色素X受体β基因分离。XI型胶原蛋白是异源三聚体，但第三条α链是翻译后修饰的II型α1链。这种XI型链的蛋白水解过程产生了PARP，PARP是富含脯氨酸/精氨酸的蛋白质，是一个氨基末端结构域。该基因的突变与III型Stickler综合征，耳骨巨响性肺上腺发育不全（OSMED综合征），Weissenbacher-Zweymuller综合征，常染色体显性非综合征性感觉神经性13型聋（DFNA13）和常染色体隐性非综合ು୔

国际国内该碱基基因序列的其他英语文字母简称：

DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3

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6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：33130469；结束位置坐标为：33160245。该基因序列在GRCh38版本中的起始位置坐标为：33162692；结束位置坐标为：33193009。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

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基因解码对该基因的功能分类：中文版

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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）：

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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）：

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该基因序列变化后增加的疾病风险（国际版）：

Deafness, Autosomal Dominant 13; Deafness, Autosomal Recessive 53; Stickler syndrome, type 3; Aplasia/Hypoplasia of the capital femoral epiphysis; Fibrochondrogenesis; Large tarsal bones; Megaepiphyseal dwarfism; Pierre Robin syndrome with fetal chondrodysplasia; Enlarged joints; Prominent interphalangeal joints; Dumbbell-shaped long bones; Enlarged epiphyses; Abnormal diaphysis morphology; Cartilage Diseases; Premature osteoarthritis; Hypoplastic pubic bone; Coronal cleft vertebrae; Bell-shaped thorax; Glossoptosis; Posterior displacement of the tongue; Hypoplastic fingernails; Hypoplastic ischia; Broad ribs; Hearing Loss, Mixed Conductive-Sensorineural; Hearing abnormality; Pierre Robin Syndrome; Hypoplastic ilia; Small wings of the pelvic girdle; Abnormal development of end part of bone; Epiphyseal dysplasia; Hypoplastic scapulae; Thoracic hypoplasia; Limb Deformities, Congenital; Protuberant abdomen; Splayed metaphyses; Disorder of eye; Metaphyseal widening; Short tubular bones; Rhizomelia; Infectious disease of lung; Multiple pulmonary infections; Recurrent pneumonia; Recurrent pulmonary infections; Short ribs; Abnormally-shaped vertebrae; Short phalanx of finger; Eye Abnormalities; Lumbar lordosis; Skin Abnormalities; Abnormality of pelvic girdle bone morphology; Short metacarpal; Wide anterior fontanel; Round face; Round, full face; Abnormality of the metaphyses; Bulbous nasal tip; Bulbous nose; Potato nose; Depressed nasal ridge; Narrow thorax; Short hands; Lordosis; Platyspondyly; Micromelia; Microstomia; Joint stiffness; Arthralgia; Contracture of joint; Flexion contracture; Flexion contractures of joints; Dermatologic disorders; Contracture; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Hyperkyphosis; Kyphosis deformity of spine; Degenerative polyarthritis; Brachydactyly; Respiratory function loss; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Long philtrum; Respiratory Insufficiency; Short neck; Craniofacial Abnormalities; Downward slant of palpebral fissure; Uranostaphyloschisis; Feeding difficulties in infancy; Low set ears; Anteverted nostril; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Cleft Palate; Orbital separation excessive; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Sensorineural Hearing Loss (disorder); Short stature; Cognitive delay; Global developmental delay; Mental and motor retardation; 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）：

耳聋常染色体显性遗传 12型；耳聋常染色体隐性遗传 52型； Stickler 综合征3 型；股骨骨骺发育不全/发育不全；纤维软骨形成；大跗骨;巨骨骺侏儒症；皮埃尔罗宾综合征伴胎儿软骨发育不良；扩大关节;突出的指间关节；哑铃形长骨；骨骺扩大；骨干形态异常；软骨疾病；早发性骨关节炎；耻骨发育不良；冠状裂椎骨；钟形胸部；舌下垂；舌头向后移位；指甲发育不全；坐骨发育不全；肋骨宽；听力损失混合传导-感觉神经性；听力异常；皮埃尔罗宾综合症；髂骨发育不良；骨盆带的小翼；骨末端发育异常；骨骺发育不良;肩胛骨发育不全；胸廓发育不全；肢体畸形先天性；腹部隆起；张开的干骺端；眼疾；干骺端扩大；短管状骨；根茎;肺部传染病；多发性肺部感染；复发性肺炎；反复肺部感染；短肋;异常形状的椎骨；手指短指骨；眼睛异常；腰椎前凸；皮肤异常；骨盆带骨形态异常；短掌骨；宽大的前囟门；圆脸;圆形全脸；干骺端异常；球状鼻尖；球鼻；土豆鼻子；鼻梁凹陷；狭窄的胸部;手短；前凸;鸭嘴兽;小梅利亚；小口症；关节僵硬；关节痛;关节挛缩；屈曲挛缩；关节屈曲挛缩；皮肤病；挛缩;眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;面部中部突出减少；中面部营养不良；面中部后缩；中脸小；脊柱后凸;脊柱后凸畸形；退行性多关节炎;短指；呼吸功能丧失；营养不良的颧骨;颧骨变平；鼻子短；小鼻子;长人中；呼吸功能不全；脖子短；颅面异常；睑裂向下倾斜； Uranostaphyloschisis;婴儿喂养困难；低位耳朵；鼻孔前倾；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；腭裂；轨道分离过度；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）；身材矮小；认知延迟；整体发育迟缓；智力和运动迟缓；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）：

Cholesterol, LDL

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）：

胆固醇，低密度脂蛋白

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