【佳學(xué)基因檢測】媽媽分子病理檢測存在COL11A2突變，我會受到什么影響？

基因檢測的序列名稱：

COL11A2

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

1302

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

collagen type XI alpha 2 chain

中國數(shù)據(jù)庫中基因全稱：

XI型膠原蛋白alpha 2鏈

基因檢測報(bào)告英文版基因簡介

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]

基因突變所影響的基因信息

該基因編碼XI型膠原（一種次要纖維狀膠原）的兩條α鏈之一。它位于6號染色體上，非常接近但與類視色素X受體β基因分離。XI型膠原蛋白是異源三聚體，但第三條α鏈?zhǔn)欠g后修飾的II型α1鏈。這種XI型鏈的蛋白水解過程產(chǎn)生了PARP，PARP是富含脯氨酸/精氨酸的蛋白質(zhì)，是一個(gè)氨基末端結(jié)構(gòu)域。該基因的突變與III型Stickler綜合征，耳骨巨響性肺上腺發(fā)育不全（OSMED綜合征），Weissenbacher-Zweymuller綜合征，常染色體顯性非綜合征性感覺神經(jīng)性13型聾（DFNA13）和常染色體隱性非綜合??

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

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

基因解碼對該基因序列在細(xì)胞核中的染色體所給予的編號：

該基因序列位于人類第6號染色體上。

基因解碼對基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：33130469；結(jié)束位置坐標(biāo)為：33160245。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：33162692；結(jié)束位置坐標(biāo)為：33193009。正確的基因信息定位是基因檢測和對檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對該基因的功能分類：國際版

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基因解碼對該基因的功能分類：中文版

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結(jié)構(gòu)與功能基因解碼所揭示的該基因在細(xì)胞內(nèi)發(fā)揮作用的場所（國際版）：

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結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細(xì)胞內(nèi)位置（中文版）：

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該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

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

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

耳聾常染色體顯性遺傳 12型；耳聾常染色體隱性遺傳 52型； Stickler 綜合征3 型；股骨骨骺發(fā)育不全/發(fā)育不全；纖維軟骨形成；大跗骨;巨骨骺侏儒癥；皮埃爾羅賓綜合征伴胎兒軟骨發(fā)育不良；擴(kuò)大關(guān)節(jié);突出的指間關(guān)節(jié)；啞鈴形長骨；骨骺擴(kuò)大；骨干形態(tài)異常；軟骨疾??；早發(fā)性骨關(guān)節(jié)炎；恥骨發(fā)育不良；冠狀裂椎骨；鐘形胸部；舌下垂；舌頭向后移位；指甲發(fā)育不全；坐骨發(fā)育不全；肋骨寬；聽力損失混合傳導(dǎo)-感覺神經(jīng)性；聽力異常；皮埃爾羅賓綜合癥；髂骨發(fā)育不良；骨盆帶的小翼；骨末端發(fā)育異常；骨骺發(fā)育不良;肩胛骨發(fā)育不全；胸廓發(fā)育不全；肢體畸形先天性；腹部隆起；張開的干骺端；眼疾；干骺端擴(kuò)大；短管狀骨；根莖;肺部傳染??；多發(fā)性肺部感染；反復(fù)性肺炎；反復(fù)肺部感染；短肋;異常形狀的椎骨；手指短指骨；眼睛異常；腰椎前凸；皮膚異常；骨盆帶骨形態(tài)異常；短掌骨；寬大的前囟門；圓臉;圓形全臉；干骺端異常；球狀鼻尖；球鼻；土豆鼻子；鼻梁凹陷；狹窄的胸部;手短；前凸;鴨嘴獸;小梅利亞；小口癥；關(guān)節(jié)僵硬；關(guān)節(jié)痛;關(guān)節(jié)攣縮；屈曲攣縮；關(guān)節(jié)屈曲攣縮；皮膚??；攣縮;眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;面部中部突出減少；中面部營養(yǎng)不良；面中部后縮；中臉?。患怪笸?脊柱后凸畸形；退行性多關(guān)節(jié)炎;短指；呼吸功能喪失；營養(yǎng)不良的顴骨;顴骨變平；鼻子短；小鼻子;長人中；呼吸功能不全；脖子短；顱面異常；瞼裂向下傾斜； Uranostaphyloschisis;嬰兒喂養(yǎng)困難；低位耳朵；鼻孔前傾；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；腭裂；軌道分離過度；發(fā)育不全的下頜骨髁；下頜發(fā)育不全;小頜畸形；感音神經(jīng)性聽力損失（障礙）；身材矮小；認(rèn)知延遲；整體發(fā)育遲緩；智力和運(yùn)動遲緩；常染色體隱性易感性

GWAS基因檢測所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

Cholesterol, LDL

GWAS基因檢測所解碼的該基因突變會增加風(fēng)險(xiǎn)的疾病種類（中文版）：

膽固醇，低密度脂蛋白

以該基因做靶點(diǎn)的藥物（國際版）：

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針對該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

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