SNPMiner Trials (Home Page)
Report for Mutation H2507Q
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There is one clinical trial. 
Clinical Trials
      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..
        Inclusion Criteria:
          -  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 --- 
  Primary Outcomes 
 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
HPO Nodes
Ichthyosis 
Genes 225
CLDN1  PHYH  TGM5  GTF2H5  TGM1  FGFR1  PEX7  ERCC2  ALDH3A2  ERCC2  SPINK5  PROK2  SLURP1  TARS1  NLRP3  ND4  ANOS1  GINS1  FLRT3  MSMO1  GBA  NSDHL  SUMF1  FLG  EMD  PEX6  KRT1  TRNQ  PIGL  ABCA12  AP1S1  SOX10  ABCA12  ERCC3  VIPAS39  EBP  EBP  POMP  RNF113A  PEX7  SEMA3A  SUMF1  KRT17  ALOX12B  CERS3  SBDS  IL2RB  KISS1R  SPINK5  PHGDH  HS6ST1  TMEM43  BRAF  AP1S1  TRNF  ORAI1  PEX5  TARS1  CSTA  LORICRIN  ALOX12B  KRT16  FHL1  POMP  DNAJC21  LSS  ABHD5  PSAT1  ALDH3A2  CLDN1  SRD5A3  TGM1  AP1B1  SLC27A4  ARSL  SLURP1  NEK9  KRT6A  STS  SNAP29  KRAS  BLM  GTF2H5  KRT10  SPRY4  CYP4F22  FEZF1  NIPAL4  TACR3  PEX26  KRT9  ND6  LIPN  NRAS  PNPLA1  PEX13  KRT2  SULT2B1  PEX12  KRT10  SLC29A3  MBTPS2  ND5  FGF17  GJB2  ALOXE3  PEX3  SDR9C7  KRT6B  KRT16  NIPAL4  KRT1  GJB6  STIM1  TMPRSS6  TGM1  KRT1  ALOXE3  SGPL1  ST14  SNAP29  GJB2  TRNH  CCDC141  LIPN  KRT14  PEX6  ITGB6  VPS33B  ABCA12  PSAT1  MPLKIP  ABCA12  CHKB  PEX1  CYP4F22  DOLK  KRT10  TRNL1  GBA  CSTA  STS  CHD7  EFL1  SHOC2  ALOXE3  LMNA  PEX2  WDR11  BRAF  PEX10  ELOVL4  CARMIL2  TRNS2  SYNE1  COL4A5  NOD2  CARD14  DCC  KRT1  NSMF  STS  MAP2K2  KRT1  TRNS1  HRAS  PNPLA1  ERCC3  PEX11B  ALOXE3  KRAS  GJB2  SRD5A3  CCDC141  EBP  ABCA12  RIN2  COX1  TGM1  PROKR2  AHSG  PEX7  DUSP6  GTF2E2  ND1  CERS3  FGF8  TRNW  KRT9  COX3  ALOX12B  ALOX12B  PEX14  DOLK  GTF2E2  MAP2K1  PIGA  PEX1  HESX1  PEX16  DSP  PEX7  PSAT1  ST14  COX2  SRP54  IL17RD  PHYH  PEX19  NIPAL4  KRT2  ABHD5  LMNA  PHGDH  KRT1  TGM1  SYNE2  KRT1  EBP  TGM1  GJB2  STIM1  MBTPS2  DSP  ALOXE3   hr>
Eczema 
Genes 150
COL5A2  TGM5  GTF2H5  SLC30A2  DDX41  CYBB  HPGD  FECH  ERCC2  MSN  GNA11  CYBA  MYSM1  NCF1  HLA-DRB1  RBM8A  KDF1  MPLKIP  TARS1  CASR  MCCC2  NCF1  SMARCC2  FOXP3  STAT3  GINS1  RNU4ATAC  TAF1  WIPF1  IL7  HDAC4  RTTN  TNFRSF1B  TP63  LBR  FLG  DHCR7  EFL1  FECH  SHOC2  KRT1  TBX1  GP1BB  RBCK1  WIPF1  NSUN2  CTLA4  CARMIL2  TRPM1  CARD14  WAS  C5  CIB1  CASP8  DOCK8  FLI1  AUTS2  NCF2  RNF113A  HPGD  ERCC3  WAS  RAC1  CARD11  SUOX  HLA-DQB1  STAT1  SBDS  FOXP3  ZNF750  MS4A2  TRAF6  TBX1  NCF2  CYBB  WAS  STAT1  COL1A1  CYBC1  PCCB  IL2RA  PAH  IFIH1  HPGD  SPINK5  HIRA  SLCO2A1  NEK9  BRAF  TMC8  BTD  IL4R  CD3G  PAH  EDARADD  MTHFD1  CYBA  CSTA  PGM3  NCF4  BTD  KRT16  EDA  EDAR  DNAJC21  DOCK8  ZNF341  SMARCA2  RREB1  RNU4ATAC  SIK3  GTF2E2  IL7R  PIGA  SRD5A3  HSPA9  HLCS  COL5A1  PIK3CA  PTPRC  SRP54  ZAP70  LIG4  NSUN2  NSMCE3  CD28  PGM3  ARVCF  TMC6  SEC24C  NCF4  DNAJC21  KRT9  CTLA4  SMARCA2  STAT3  POLE  FLI1  PCCA  PLA2G7  JMJD1C  TRAF3IP2  MBTPS2  RAC1  TBX1  COMT  UFD1  NOD2  KANSL1  STAT3   hr>
Inflammatory abnormality of the skin 
Genes 454
TGM5  GTF2H5  TGM1  IL17RA  MSN  FERMT3  CTSC  MBTPS2  ERCC2  BTK  NFKB1  SPINK5  ERCC4  B2M  TP63  KRT5  CASP10  NLRP3  MCCC2  LMBRD1  LYZ  STAT3  GINS1  RFX5  KIT  HYOU1  TP63  FLG  DHCR7  TGFB1  KRT1  PEPD  MBTPS2  TRPM1  WAS  KDSR  CIB1  ENPP1  PSTPIP1  SH3PXD2B  HPGD  NOD2  ALOX12B  CERS3  TNFAIP3  ZNF750  RFXAP  MS4A2  TBX1  CACNA1G  IFIH1  SPINK5  SLC6A19  ERCC5  HIRA  WNT4  SLCO2A1  BRAF  WNT4  CD3G  EDARADD  CYBA  CSTA  DOCK8  SMARCA2  HLCS  CARD14  KRT17  CIITA  HLA-DPB1  KIF11  MEFV  AP1B1  IL10  COL5A1  PTPRC  DNASE1  NSUN2  IL12A-AS1  PAPSS2  ARVCF  KRT5  RAG2  SEC24C  SMARCAD1  FCGR2A  IL2RG  DNAJC21  CD28  AIP  PNPLA1  SPTB  FLI1  CD3E  PLA2G7  ELANE  SULT2B1  CHST14  JMJD1C  TCF3  SLC29A3  COMT  AGA  SDR9C7  CLEC7A  STAT3  ADAM17  CD247  SPTA1  TNFRSF1A  KRT1  GJB6  BCL11B  BLNK  MEIS2  FAM111B  NLRP3  MYSM1  GJB2  HLA-DRB1  IRF2BP2  LAMB3  CD79B  KDF1  MPLKIP  ABCA12  CASR  POMP  NCF1  NCSTN  CYP4F22  SRP54  RNU4ATAC  IL1RN  MNX1  EFL1  FECH  SHOC2  MIF  C1R  GP1BB  POLR3A  WIPF1  CARMIL2  CTSC  TTC7A  JAK3  DOCK8  FLI1  KRT14  NLRP12  SPP1  CTLA4  GJB3  IL7R  GJB2  USP8  SUOX  FOXC2  FOXP3  GATA3  CYBB  LHCGR  COL1A1  DCLRE1C  PSMB4  PTPN22  KIT  SP110  BTNL2  TMC8  BTK  CCBE1  CTSB  GJA1  PRKACA  PGM3  EDAR  LPIN2  RREB1  PEPD  RNU4ATAC  GPR101  GTF2E2  H6PD  PIGA  C1QA  KRT10  KLRC4  CFI  BTK  HLA-B  PDGFRA  APOA1  ZAP70  LIG4  ADAMTS3  EPB42  TMC6  ERCC2  ELANE  BTNL2  KIT  SDHA  STAT3  IL17F  ADA  DSG1  PRTN3  NFE2L2  KRT1  COX4I2  NOD2  RMRP  FGA  ANK1  ALOXE3  COL7A1  COL5A2  NFKB2  DDX41  HPGD  CCR1  ERCC2  AK2  LACC1  HSD3B2  LIG4  IL17RA  TARS1  TCIRG1  SH3PXD2B  SMARCC2  WIPF1  RFXANK  IL7  LMBRD1  MSMO1  TNFRSF1B  LBR  FGFR2  IL17RC  TBX1  PTPN22  RBCK1  IL17F  STAT4  ABCA12  GJC2  C5  ABCA12  GJB4  AUTS2  HLA-DRB1  AP1S3  CCBE1  GFI1  EPG5  RNF113A  TEK  POR  ERCC3  NAXD  RFXANK  GATA1  CARD11  HLA-DQB1  GJC2  FLT4  SBDS  LYST  TTC7A  STAT1  CYBC1  PCCB  HLA-DPA1  RIPK1  HPGD  RAG2  BTD  CLEC7A  PAH  NR3C1  BTD  KRT16  DNAJC21  IL10RA  CIITA  ADA  EXTL3  ZNF341  SIK3  TNFRSF1A  PSENEN  IL7R  MYD88  SRD5A3  HLCS  LBR  IGHM  TRAF3IP2  LIG4  NSMCE3  GTF2H5  KRT10  ESR1  PGM3  CYP4F22  IL12A  PSMB8  TNFRSF1B  IL23R  RFX5  NIPAL4  DNASE1L3  IL10RB  IL6  EGFR  KRT9  CTLA4  SLC39A4  LIPN  ECM1  POLE  TRAF3IP2  HLA-B  MBTPS2  RAC1  SHANK3  XYLT1  ZAP70  UFD1  KANSL1  FAT4  NIPAL4  CARD9  TGM1  ACADVL  SLC30A2  CYBB  PSEN1  FECH  GNA11  ALOXE3  CYBA  TREX1  RAG1  PSMB9  NCF1  AIRE  RBM8A  SDHC  LPIN2  RAG1  TFRC  NLRC4  FOXP3  KRT10  ERAP1  TAF1  ITGA6  SDHB  LYST  HDAC4  RTTN  CD3D  VEGFC  CTLA4  DCLRE1C  LRRC8A  NSUN2  CTLA4  IL7R  NOD2  CARD14  IL2RG  CASP8  FCGR2B  RAG1  MPDU1  IGLL1  PSTPIP1  NCF2  KRT1  PNPLA1  ERCC3  WAS  RAC1  CTLA4  CD79A  SLC4A1  CDK10  STAT1  RBP4  FAS  AIRE  KDF1  TRAF6  NCF2  ITGB4  WAS  IL2RA  PAH  HLA-DRB1  TLR4  MBL2  STAT4  NEK9  LAMA3  IL4R  MVK  MTHFD1  ADA2  GLUL  LAMC2  NCF4  XIAP  PIK3R1  EDA  CHD7  ALOX12B  IL36RN  CDH23  UBE2A  STING1  HSPA9  UBAC2  PIK3CA  SRP54  ESR1  C4A  CD28  RAG2  IRAK1  RFXAP  ABCC6  NIPAL4  NCF4  IL2RG  UROS  SMARCA2  MEFV  TGM1  FERMT1  PCCA  MVK  EBP  TBX1  TGM1  GJB2  HLA-C  IKBKG  NFKB2  DCLRE1C   hr>
Atopic dermatitis 
Genes 9
DOCK8  IFIH1  HSPA9  DOCK8  ZNF341  PGM3  CARD11  NEK9  BRAF   hr>
Congenital nonbullous ichthyosiform erythroderma 
Genes 18
POMP  ABHD5  SPINK5  ALOXE3  GTF2H5  CYP4F22  ALOX12B  GBA  NIPAL4  ERCC2  GBA  ERCC3  ALOXE3  SPINK5  ABHD5  TARS1  LORICRIN  TGM1   hr>