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次世代定序疾病基因突變檢測—聽損相關之基因檢測（小範圍/大範圍/全表現子）

【次世代定序疾病基因突變檢測—小範圍—聽損 (48個基因)】

本項目檢測為針對48個國內盛行率較高之聽損相關基因：

ADGRV1, AIFM1, CDH23, DIAPH3, EDN3, EDNRB, EYA1, FOXI1, GJA1, GJB1, GJB2, GJB3, GJB4, GJB6, KCNJ10, KCNQ4, MITF, MTRNR1, MTTL1, MTTS1, MYH14, MYO15A, MYO6, MYO7A, OPA1, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PCDH9, PJVK, POU3F4, POU4F3, PTPRQ, SIX1, SIX5, SLC26A4, SNAI2, SOX10, STRC, TECTA, TMC1, TMPRSS3, USH2A, WFS1

 

【次世代定序疾病基因突變檢測—大範圍—聽損 (217個基因)】

本項目檢測包含217個國內外文獻報導盛行率較高之聽損相關基因：

ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ATP2B2, ATP5MF, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BSND, BTD, CA2, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEMIP, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYL1, CRYM, DCDC2, DFNA5, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, DUOX2, ECE1, EDN3, EDNRA, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ERCC2, ERCC3, ESPN, ESRRB, EYA1, EYA4, FAS, FGF3, FGFR1, FGFR2, FGFR3, FITM2, FOXI1, GATA3, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB4, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, GSTP1, HAL, HARS, HARS2, HECTD3, HGF, HOMER2, HSD17B4, ILDR1, JAG1, KARS, KCNE1, KCNJ10, KCNJ11, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LHX3, LOXHD1, LOXL3, LRP5, LRTOMT, MARVELD2, MCM2, MET, MIR182, MIR183, MIR96, MITF, MPZ, MPZL2, MSRB3, MT_RNR1, MT_TL1, MT_TS1, MTAP, MYH14, MYH9, MYO15A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NARS2, NDP, NF2, NLRP3, NR2F1, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTOR, P2RX2, PAX3, PCDH15, PCDH9, PDZD7, PEX1, PEX6, PEX7, PHYH, PJVK, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, PTRH2, RDX, RIPOR2, ROR1, S1PR2, SCARB2, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC4A1, SLC4A11, SLC52A2, SLC52A3, SLC6A13, SLITRK6, SMPX, SNAI2, SOX10, SOX2, SPINK5, STRC, SYNE4, TBC1D24, TBL1X, TBX1, TCF21, TCOF1, TECTA, TECTB, TFCP2, TIMM8A, TJP2, TMC1, TMEM126A, TMEM132E, TMIE, TMPRSS3, TMPRSS5, TNC, TPRN, TRIOBP, TSPEAR, TWNK, USH1C, USH1G, USH2A, WBP2, WFS1, WHRN

 

【次世代定序全表現子基因檢測—聽損 (728個基因)】

本檢測分析目前已知聽損相關基因：

AARS1, ABCC1, ABCC9, ABHD12, ABHD5, ABR, ACAN, ACO2, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, ADK, AHDC1, AIFM1, AK2, ALDH1A2, ALMS1, AMER1, AMMECR1, ANAPC7, ANKH, ANOS1, AP1B1, AP1S1, AP3D1, APAF1,AQP4, ARL2BP, ARSB, ARSG, ATF2, ATOH1, ATP11A, ATP1A2, ATP1A3, ATP2B2, ATP5MF, ATP6AP1, ATP6V0A4, ATP6V1B1, ATP6V1B2, ATP8B1, AXIN1, BARHL1, BBS1, BBS4, BCAP31, BCR, BCS1L, BDNF, BDP1, BEAN1, BLOC1S5, BLOC1S6, BMP4, BMP5, BRF1, BRIP1, BSN, BSND, BTD, CA2, CABP2, CACNA1D, CACNB2, CACNG2, CAPN15, CASK, CASP3, CATSPER2, CCBE1, CCDC103, CCDC39, CCDC40, CCDC50, CCNO, CD151, CD164, CDC14A, CDC6, CDH23, CDK5RAP2, CDKN1B, CDKN2D, CDT1, CEACAM16, CELSR1, CEMIP, CEP250, CEP78, CFAP300, CHD4, CHD7, CHRNA9, CHST14, CHSY1, CIB2, CISD2, CKB, CLCN7, CLCNKA, CLCNKB, CLDN11, CLDN14, CLDN9, CLIC5, CLNS1A, CLPP, CLRN1, CLRN2, CNBP, CNOT1, CNRIP1, COA8, COCH, COG4, COG5, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COLEC11, COX10, CPLX1, CREBBP, CRYL1, CRYM, CSPP1, CTSA, DACT1, DCAF17, DCDC2, DCHS1, DDB2, DDR1, DDX11, DGUOK, DHODH, DHX16, DIABLO, DIAPH1, DIAPH3, DIO2, DIO3, DLX2, DLX5, DMD, DMXL2, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAJC3, DNAL1, DNMT1, DSPP, DUOX2, DUSP6, DVL1, DVL2, DVL3, ECE1, ECM1, EDN3, EDNRA, EDNRB, EFTUD2, EIF4A3, ELMOD3, EP300, EPG5, EPHB1, EPHB2, EPHB3, EPRS1, EPS8, EPS8L2, ERAL1, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ESPN, ESR2, ESRP1, ESRRB, EVC, EXOSC2, EXOSC8, EYA1, EYA4, EZH2, FABP4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FAT4, FBXO2, FDXR, FGF10, FGF3, FGFR1, FGFR2, FGFR3, FIGN, FITM2, FKBP14, FLNA, FLNB, FLRT3, FOXC1, FOXF2, FOXG1, FOXI1, FOXI3, FRAS1, FREM2, FSHMD1A, FTO, FZD3, FZD6, G6PC3, GAB1, GAS2, GAS8, GATA2, GATA3, GBX2, GDF6, GFER, GFI1, GGPS1, GIPC3, GJA1, GJA1P1, GJB1, GJB2, GJB3, GJB4, GJB5, GJB6, GLA, GLI3, GMPPA, GMPPB, GNAI3, GPC4, GPRASP2, GPSM2, GPX1, GRAP, GREB1L, GRHL2, GRID1, GRIP1, GRXCR1, GRXCR2, GSC, GSDME, GSTM1, GSTP1, GSTT1, GUSB, GZF1, H3-3A, H3-3B, H4C9, HAAO, HAL, HARS1, HARS2, HAX1, HCCS, HECTD3, HES1, HES5, HGF, HGSNAT, HMX1, HMX2, HMX3, HOMER2, HOXA1, HOXA2, HOXB1, HSD17B10, HSD17B4, HSPA9, HTRA2, IARS2, IFNLR1, IFT88, IGBP1, IGF1, IGSF3, IL17RD, ILDR1, ITGA8, ITM2B, JAG1, JAG2, KARS1, KAT6B, KCNE1, KCNJ10, KCNJ11, KCNJ16, KCNMA1, KCNQ1, KCNQ4, KDM3B, KDM6A, KIF15, KIF22, KIT, KITLG, KMT2D, LAMA2, LAMA3, LARGE1, LARS2, LEMD3, LFNG, LHFPL5, LHX3, LMNA, LMO4, LMX1A, LONP1, LOXHD1, LOXL3, LRIG3, LRP2, LRP5, LRRC32, LRRC56, LRTOMT, MAF, MAFB, MAN2B1, MANBA, MAP1A, MAP1B, MAP3K7, MAPKAPK5, MARVELD2, MASP1, MATR3, MCM2, MCOLN3, MET, METTL13, MGAT2, MGP, MIA3, MIR182, MIR183, MIR96, MITF, MKKS, MN1, MORC2, MOS, MPV17, MPZ, MPZL2, MRPS2, MRPS28, MRPS7, MSRB3, MSX2, MTAP, MT-ATP6, MT-CO1, MTHFD1, MT-ND1, MT-RNR1, MT-TC, MT-TE, MT-TF, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TP, MT-TQ, MT-TS1, MT-TS2, MYCN, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NARS2, NAV2, NCAPG2, NCOA3, NDP, NDRG1, NEFL, NEU1, NEUROD1, NEUROG1, NF1, NF2, NIPBL, NKX3-2, NLRP3, NME5, NME8, NMNAT1, NOG, NOTCH1, NOTCH2NLC, NOX3, NOXO1, NR2F1, NR4A3, NRCAM, NTF3, NTN1, NTRK2, NTRK3, NUP133, OC90, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, OGDHL, OPA1, ORC1, ORC4, ORC6, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTOP1, OTOR, OTX1, OTX2, P2RX2, PAX1, PAX2, PAX3, PBX1, PCDH15, PCDH9, PDE1C, PDSS1, PDZD7, PET100, PEX1, PEX26, PEX6, PEX7, PGM3, PHEX, PHYH, PIGB, PIGS, PIGV, PIK3C2A, PITX2, PJVK, PLCB4, PLEK, PLOD3, PLS1, PMP22, PNOC, PNPT1, POGZ, POLD1, POLG, POLH, POLR1A, POLR1B, POLR1C, POLR1D, PORCN, POU1F1, POU3F4, POU4F3, PPIP5K2, PPP2R3C, PPP3R1, PRDM5, PROP1, PRORP, PRPS1, PRRX1, PRRX2, PSMC3, PTCD3, PTH1R, PTK7, PTPN11, PTPN14, PTPRQ, PTRH2, PUS7, QRSL1, RAB23, RAD50, RAI1, RARA, RARB, RARG, RASA1, RBMX, RDX, RECQL4, REST, RIPOR2, RNASET2, RNF13, RNF220, ROR1, RPGR, RPL26, RPS23, RPS28, RPS6KA3, RRM2B, RSPH1, RSPH4A, RSPH9, RSPO1, S1PR2, SALL1, SALL4, SARS1, SBF2, SCARB2, SCD5, SCRIB, SCUBE3, SDHD, SEC31A, SECISBP2, SEMA3E, SERAC1, SERPINB6, SF3B4, SGPL1, SIX1, SIX2, SIX5, SLC10A7, SLC12A2, SLC12A6, SLC12A7, SLC17A8, SLC19A2, SLC1A3, SLC22A4, SLC25A4, SLC26A4, SLC26A5, SLC29A3, SLC30A4, SLC33A1, SLC44A4, SLC4A1, SLC4A11, SLC4A7, SLC52A2, SLC52A3, SLC6A13, SLC6A8, SLC9A1, SLITRK6, SLX4, SMAD4, SMPX, SMS, SNAI2, SNX10, SOBP, SOD1, SORD, SOST, SOX10, SOX2, SOX9, SPATA5, SPATA5L1, SPATC1L, SPINK5, SPNS2, SPRY2, SPRY4, SPTBN4, SPZ1, SQSTM1, SRP72, SSBP1, ST3GAL5, STK36, STRC, STXBP3, SUCLA2, SUMF1, SYNE4, SYNJ2, TBC1D24, TBL1X, TBL1Y, TBX1, TBX10, TCF21, TCIRG1, TCOF1, TECTA, TECTB, TFAP2A, TFCP2, TGFA, TGFB2, THOC1, THRA, THRB, TIMM8A, TIMMDC1, TJP2, TMC1, TMEM126A, TMEM132E, TMEM43, TMEM53, TMEM67, TMIE, TMPRSS3, TMPRSS5, TMTC2, TNC, TNFRSF11A, TNFRSF11B, TNFSF11, TOP2B, TOP3A, TP63, TPRN, TRIOBP, TRMU, TRNT1, TRPV4, TRRAP, TSHR, TSHZ1, TSPEAR, TSR2, TUB, TUBB4B, TWIST1, TWNK, TWSG1, TXNL4A, TYRP1, UBR1, UCN, UNC45A, UQCRFS1, USH1C, USH1G, USH2A, USP48, USP53, VANGL2, VPS33B, WBP11, WBP2, WDR37, WFS1, WHRN, WIF1, XPA, XPC, XPNPEP3, XYLT2, YAP1, YARS1, YME1L1, ZMYND10, ZNF699, ZPR1

 

盛行率
根據統計，每1000名新生兒約2～3名合併帶有中至重度聽力損失，若加上輕度和單側聽損，則每1000名新生兒有高達7～8位有聽力損失。先天性聽損當中約有超過50%是遺傳因素，這50%遺傳性聽損個案中又有7成為非症候群性聽損，3成為具有其他症狀之症候群性聽損。
根據台大耳鼻喉部與基因醫學部統計，國人之先天性聽損有近20%為GJB2 基因造成，15%為SLC26A4 基因造成，其他遺傳原因相對少見，分布在眾多基因中，因此在初步基因熱點上 (GJB2, SLC26A4、粒線體m.1555位置) 未有確診之個案，可參考此次世代定序檢測項目，一次掃描大量基因。

 

臨床症狀
大部分為非症候群性聽力損失，意指除了聽損之外，身體沒有其他症狀出現，部分病人合併其他症狀，為症候群性聽力損失，分別詳列如下：

  1. 瓦登伯格症候群 (Waadenburg syndrome)：眼睛虹膜單側或雙側藍色，中間前面頭髮白，眼距較寬，上肢異常，先天性巨結腸症，聽力損失。
  2. 鰓耳腎症候群 (Branchio-Oto-Renal syndrome, BOR)：出現鰓弓，雙重輸尿管，腎臟較小或單腎，一半以上咽喉與外部相通，耳廓畸形，耳道閉鎖，耳前瘺管，耳蝸異常，聽力損失。
  3. 艾柏症候群 (Alport syndrome)：慢性腎功能不全，尿蛋白，血尿，聽力損失，少部分眼睛有問題。
  4. Pendred症候群：通常有雙側前庭導水管擴大造成中重度以上聽損，部分耳蝸發育異常，甲狀腺腫大。
  5. 尤塞氏症候群 (Usher syndrome)：同時出現視網膜色素病變引發視力退化，聽力損失，部份伴隨嚴重平衡問題導致坐立、行走困難。

因致病基因眾多，並受環境等因素調控，在不同病人身上可能出現之症狀及程度不一，藉由基因檢測可能發現真正病因，並在症狀不明顯時即取得治療之先機。

 

遺傳模式
體染色體顯性遺傳、體染色體隱性遺傳、X染色體性聯遺傳與粒線體遺傳模式皆有可能。

 

檢驗方法
以次世代定序技術分析上述基因上所有的exons，是否發生突變或缺失。檢測出的變異位點再經傳統定序方法 (Sanger Sequencing) 確認。

 

檢體需求：2支3毫升紫頭EDTA採血管，血液採集後將立即混和均勻，避免溶血及凝血。

 

報告時程：次世代定序檢測到傳統定序方法確認，約需12個禮拜。

 

檢驗侷限性

  1. 由於上述基因共涵蓋超過1000個exons，龐大且複雜，本檢驗方法對於大部分基因皆僅檢驗各基因表現子 (exons) 的部分，且仍有可能少數基因序列因序列捕捉與定序深度不足而產生變異位點偵測疏漏。此外，若基因變異屬於大片段缺失或插入 (large deletions or insertions)、重複 (duplication)、重組 (rearrangements) 及翻轉 (inversion)，則可能無法由本方法檢驗出來。
  2. 由於聽力損失之程度與型態多樣，請隨送件時盡可能詳細註明，附上聽力檢查結果及家族遺傳歷史，若有其他非聽損之症狀也可一同說明，將有助於判斷基因檢測結果。
  3. 依衛生福利部規定，目前所有分子遺傳診斷皆屬研究性質，本檢驗結果僅供醫療專業人員作為臨床參考之用，並需配合其他相關臨床資料進行最佳綜合判斷。

 

【聽損檢測基因項目、檢測時機與檢測方式說明】

（點擊上方圖片可顯示完整大小之說明傳單）

 

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