SNPMiner Trials: Mutation Report
Report for Mutation G2545R
Developed by Shray Alag, 2019.
SNP Clinical Trial Gene
There is one clinical trial.
The investigators' primary objective is to identify common and rare mutations in the
filaggrin gene in African American patients with a diagnosis of atopic dermatitis and
ichthyosis vulgaris. Atopic dermatitis, or eczema, is a common, chronic, relapsing and
remitting problem in many children and affects 10-20% of the pediatric population. Itch is a
predominant feature of this disease and is quite disruptive to daily activities of life. In
addition to itch, it is characterized by markedly dry skin, small red bumps that may have
fluid. Ichthyosis vulgaris is characterized by extremely dry, scaly skin with a fine white
scale and increased amounts of lines noted on the palms. Filaggrin is a protein that is
essential for the skin to function properly as a barrier and found to be mutated in some
European patients with ichthyosis vulgaris and atopic dermatitis. This association has not
been looked at in the African American population. Genomic DNA (gDNA) will be purified from
buccal swabs using commercially available kits and analyzed.
All nucleotide changes were noted, including 30 single nucleotide polymorphism (SNPs) in the population tested, the most common of which were coding changes at T454A, H2507Q, and G2545R, and silent change at nucleotide t2508c..
- Age greater than 6 months
- Affected subjects: Must be African American and have a diagnosis of both atopic
dermatitis or eczema as well as ichthyosis vulgaris
- Control subjects: Must be healthy African American subjects
- Must be willing to not apply emollients for 24 hours prior to visit. --- T454A --- --- H2507Q --- --- G2545R ---
Description: Buccal swab samples were obtained from each subject. Deoxyribonucleic acid (DNA) was purified from buccal swabs (IsoHelix Swabs, BocaScientific, Boca Raton, FL) and quantified by ultraviolet spectrophotometry. Purified genomic DNA and controls were amplified by polymerase chain reaction (PCR) from three different regions of FLG exon 3 with three primer sets. PCR products were analyzed by electrophoresis, purified (Qiaquick, Qiagen, Valencia, CA), and subjected to duplicate cycle sequencing reactions using ABI BigDye v3.1 reagents (Applied Biosystems, Carlsbad, CA). Labeled sequencing products were purified for capillary electrophoresis (ABI3730 or ABI3130 sequencer with POP7 polymer), and sequence results were examined using ABI SeqScape software. All nucleotide changes were noted, including 30 single nucleotide polymorphism (SNPs) in the population tested, the most common of which were coding changes at T454A, H2507Q, and G2545R, and silent change at nucleotide t2508c. Measure
: Heterozygous for Filaggrin (FLG) Null Mutations Time
: 1 month
Genes 145PROK2 KRAS COL4A5 SOX10 FLG KRT1 KRT2 KRT6A KRT6B EFL1 PIGL NIPAL4 PSAT1 KRT9 KRT10 SLC29A3 ERCC2 KRT14 ERCC3 KRT16 CARMIL2 NRAS SRD5A3 KRT17 DSP ABCA12 SYNE1 TMPRSS6 GJB6 PEX3 DUSP6 RNF113A DOLK SLURP1 GBA PEX1 PEX6 PEX7 DNAJC21 PEX10 PEX12 SRP54 PEX13 PEX14 LIPN CHD7 TMEM43 DCC PEX11B CHKB SHOC2 CCDC141 NEK9 GINS1 ITGB6 ST14 PHGDH HESX1 CLDN1 TGM5 NLRP3 FGF17 PEX26 SNAP29 NSDHL SDR9C7 NOD2 BLM ELOVL4 STIM1 SEMA3A TGM1 ORAI1 PHYH GTF2E2 GJB2 ANOS1 AP1S1 VIPAS39 ABHD5 KISS1R STS NSMF PNPLA1 PIGA ARSE MBTPS2 LMNA COX1 BRAF COX2 COX3 PROKR2 MSMO1 VPS33B SULT2B1 WDR11 FEZF1 POMP LOR SGPL1 SBDS HS6ST1 RIN2 SUMF1 ND1 SYNE2 CERS3 SPRY4 EBP ND4 ND5 ND6 PEX19 PEX16 HRAS CSTA PEX2 AHSG MPLKIP GTF2H5 PEX5 CYP4F22 FGF8 TRNF ALOXE3 FGFR1 TRNH TACR3 TRNL1 FLRT3 EMD TRNQ TRNS1 TRNS2 ALDH3A2 FHL1 TRNW MAP2K1 IL17RD MAP2K2 ALOX12B CARD14 SLC27A4 SPINK5
Genes 114CYBB FLG KRT1 COL5A1 FLI1 COL5A2 EFL1 KRT9 ERCC2 TRAF6 ERCC3 CIB1 KRT16 CARMIL2 SRD5A3 WAS HDAC4 COMT WIPF1 DOCK8 HLA-DQB1 POLE HLA-DRB1 CYBC1 NCF1 RNF113A TMC6 HLCS DNAJC21 CASP8 SRP54 CASR NCF2 NCF4 MCCC2 LBR SIK3 RREB1 NSMCE3 SLC30A2 SHOC2 EDA NSUN2 NEK9 GINS1 JMJD1C ZAP70 MYSM1 STAT1 TGM5 PGM3 STAT3 RBCK1 HIRA RNU4ATAC MSN NOD2 IFIH1 ZNF750 LIG4 GTF2E2 CD3G PTPRC PIGA KANSL1 SEC24C MBTPS2 BRAF EDAR ARVCF SUOX ZNF341 MTHFD1 PIK3CA CD28 BTD SBDS HPGD TP63 SLCO2A1 EDARADD DHCR7 UFD1 FECH PAH TMC8 CSTA SMARCA2 MPLKIP GTF2H5 SMARCC2 GNA11 CARD11 RBM8A TRPM1 CTLA4 C5 TAF1 TNFRSF1B KDF1 IL2RA PCCA PCCB HSPA9 TBX1 CARD14 IL7 IL7R RAC1 GP1BB COL1A1 SPINK5 CYBA FOXP3
Genes 311CYBB IL10 IL10RA IL10RB TRAF3IP2 MYD88 IL12A IRF2BP2 NLRP12 SLC29A3 ERCC2 TRAF6 ERCC3 ERCC4 ERCC5 PRTN3 HDAC4 PSEN1 RIPK1 HLA-B PDGFRA CHST14 MNX1 ERAP1 HLA-DPA1 ABCA12 HLA-DPB1 PSENEN HLA-DQB1 GJB4 ENPP1 CTSC ESR1 HLA-DRB1 GJB6 SPTA1 CYBC1 SPTB B2M NCF1 RNF113A TMC6 PSMB4 SLC6A19 GATA1 PEPD BLNK PSMB8 GATA3 PSMB9 HLCS CLEC7A ITGA6 TCIRG1 DNAJC21 CDH23 SRP54 PTPN22 NCF2 NCF4 SMARCAD1 MCCC2 TMEM173 EXTL3 WNT4 GPR101 RREB1 ADA SLC30A2 ADA2 NSUN2 IL17F LYST NEK9 ITGB4 GINS1 KLRC4 GFI1 MYSM1 MEFV NLRC4 MEIS2 STAT1 TGM5 PGM3 STAT3 STAT4 HIRA RNU4ATAC FAM111B NOD2 JAK3 IFIH1 GJA1 GJB2 GJB3 PTPRC PNPLA1 PIGA MBTPS2 BRAF EDAR MSMO1 SULT2B1 CIITA SUOX PIK3CA CARD9 POMP NFE2L2 BTD AGA PIK3R1 HPGD EDARADD DHCR7 NFKB1 BTK NFKB2 UFD1 MIF FECH GLUL TMC8 FGA GTF2H5 AK2 CCR1 GNA11 C4A CACNA1G RBM8A HSD3B2 TRPM1 ADAM17 IL17RA C5 FGFR2 TAF1 COX4I2 UROS KDF1 KIT DNASE1L3 HSPA9 ALOX12B IL23R TBX1 CARD14 SDHA SDHB RAC1 SDHC KIF11 FERMT3 GP1BB COL1A1 SPINK5 FOXP3 FOXC2 VEGFC FLG KRT1 RAG1 COL5A1 FLI1 RAG2 COL5A2 KRT5 COL7A1 EFL1 NIPAL4 FAT4 KRT9 TCF3 KRT10 FLT4 KRT14 CIB1 KRT16 CARMIL2 HYOU1 SRD5A3 ANK1 WAS COMT KRT17 WIPF1 ADAMTS3 DSG1 DOCK8 POLE MPDU1 FERMT1 RBP4 IKBKG LAMA3 AIRE POR CASP8 LAMB3 XIAP CASP10 GJC2 CASR LAMC2 SLC39A4 APOA1 IL17RC LIPN CHD7 AIP NCSTN LBR PSTPIP1 H6PD SIK3 NR3C1 NSMCE3 CFI TEK FAS PAPSS2 SHOC2 ECM1 SP110 EDA RFX5 RFXAP CDK10 JMJD1C SHANK3 ZAP70 ABCC6 NLRP3 RBCK1 POLR3A SLC4A1 EPG5 TFRC MSN SDR9C7 TGFB1 TTC7A LHCGR RMRP ZNF750 TGM1 USP8 LIG4 GTF2E2 SH3PXD2B CD3G BCL11B IL36RN KANSL1 SEC24C EGFR ARVCF DCLRE1C ZNF341 LACC1 MTHFD1 IL12A-AS1 CD28 CCBE1 SBDS RFXANK TP63 SLCO2A1 IGHM BTNL2 CERS3 EBP NAXD TLR4 PAH PRKACA LPIN2 CSTA SMARCA2 MPLKIP LRRC8A ELANE SMARCC2 CYP4F22 CD79A CD79B UBAC2 ALOXE3 CARD11 CTLA4 IGLL1 TNFAIP3 TNFRSF1A TNFRSF1B KDSR CTSB IL1RN LYZ IL2RA PCCA PCCB IL2RG LMBRD1 IL6 EPB42 IL7 MVK IL7R CYBA
Genes 7CARD11 BRAF HSPA9 IFIH1 ZNF341 DOCK8 NEK9
Genes 12ALOXE3 ALOX12B ERCC2 GBA GTF2H5 ERCC3 ABHD5 POMP CYP4F22 SPINK5 LOR NIPAL4