Erkrankungen des Muskel- und Skelettapparats können monogenetisch bedingt sein, wobei der genetische Befund häufig von therapeutischer und prognostischer Relevanz ist. Bekannte Beispiele für Muskelerkrankungen mit gezielten Gen-therapeutischen Behandlungsoptionen sind Muskeldystrophien und spinale Muskelatrophie. Für die Knochenerkrankung Osteogenesis imperfecta ("Glasknochenkrankheit") konnte gezeigt werden, dass die Knochenbrüchigkeit durch die Einnahme von Biphosphonaten reduziert werden kann.
Empfohlene Panels
Skelettdysplasien
663 Gene bei komplexen Syndromen mit Skelettbeteiligung:
ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1, ADI1, AFF3, AFF4, AGA, AGPS, AHI1, AIFM1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC2, ANKH, ANKRD11, ANO5, ANTXR1, ANTXR2, APC2, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSE, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, ATXN10, B3GALT6, B3GAT3, B3GLCT, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMP4, BMPER, BMPR1B, BVES, C21ORF2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC28B, CCDC39, CCDC40, CCDC8, CCN6, CCNQ, CD96, CDC45, CDC6, CDC73, CDH15, CDH23, CDH3, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP164, CEP290, CEP41, CFAP410, CFTR, CHST14, CHST3, CHSY1, CILK1, CKAP2L, CLCN5, CLCN7, CLRN1, COG1, COG4, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CORIN, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRIPT, CRLF1, CRTAP, CRX, CSF1R, CSGALNACT1, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, DACT1, DCC, DDR2, DDRGK1, DDX58, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DMTF1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAL1, DNMT3A, DOCK6, DOLPP1, DPAGT1, DPM1, DPM2, DPM3, DSE, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EDN1, EDNRA, EED, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENAM, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20B, FAM20C, FAM83H, FANCB, FANCC, FAR1, FBLIM1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FOXC1, FOXH1, FUCA1, FUZ, FZD2, GALNS, GALNT3, GCM2, GDF1, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GLIS2, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HAAO, HDAC4, HDAC5, HDAC8, HES7, HGSNAT, HHAT, HNRNPK, HOXA11, HOXA13, HOXD10, HOXD11, HOXD13, HPGD, HRAS, HSPA9, HSPG2, HYLS1, IARS2, ID4, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IFT88, IGF1, IGF1R, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, IMPDH1, INPPL1, INTU, INVS, IQCB1, KAT6B, KCNJ13, KCNJ2, KIAA0586, KIAA0753, KIF22, KIF7, KL, KMT2A, KMT2D, KYNU, LBR, LCA5, LEFTY2, LEMD3, LEPRE1, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MAN2C1, MANBA, MAP2K1, MAP3K20, MAP3K7, MASP1, MATN3, MBTPS2, MCM5, MECOM, MEGF8, MEOX1, MESP2, MET, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MRPL13, MSX2, MTAP, MYCN, MYH3, MYO18B, MYO7A, NAGLU, NANS, NBAS, NEK1, NEK8, NEK9, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NPR3, NPRL2, NPRL3, NRAS, NSD1, NSDHL, NSMCE2, NXN, OAT, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIN1, PIR, PISD, PITX1, PKD2, PKHD1, PLCB3, PLCB4, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLE, POLR1A, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PORCN, PPIB, PRKAR1A, PRKD2, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, PYDC1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIPPLY2, ROR2, RORA, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL13, RSPH4A, RSPH9, RSPO2, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC24D, SEM1, SERPINA2, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFI1, SFRP4, SGMS2, SGSH, SH3BP2, SH3D19, SH3PXD2B, SHH, SHH-ZNS, SHOX, SKI, SLC10A7, SLC17A5, SLC25A15, SLC25A23, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SLTM, SLURP1, SMAD2, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SRCAP, SRP54, STAMBP, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDP2, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TONSL, TOPORS, TP63, TRAF3IP1, TRAIP, TRAPPC2, TREM2, TRIM32, TRIM37, TRIP11, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TTC21B, TTC8, TULP1, TWIST1, TYROBP, UFSP2, UMOD, USH1C, USH1G, USH2A, USP9X, VAC14, VDR, VHL, VIPAS39, VPS33A, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, WNT1, WNT10B, WNT3, WNT5A, WNT6, WNT7A, WRN, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC3, ZMPSTE24, ZNF423 und ZSWIM6
Material
- EDTA-Blut (1-4 ml)
- Mundschleimhautabstrich
Termin zur genetische Beratung
Organisatorischer Ablauf
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