SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation H2507Q

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population

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.

NCT01016106
Conditions
  1. Atopic Dermatitis
  2. Ichthyosis Vulgaris
Interventions
  1. Genetic: Buccal Swab
MeSH:Dermatitis, Atopic Ichthyosis Ichthyosis, Lamellar Ichthyosis Vulgaris Dermatitis Eczema
HPO:Atopic dermatitis Congenital nonbullous ichthyosiform erythroderma Eczema Eczematoid dermatitis Ichthyosis Inflammatory abnormality of the skin

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


HP:0011123: Inflammatory abnormality of the skin
Genes 494
ALOXE3 CARD11 LPIN2 COL7A1 RNASEH2C NLRP3 LSS VEGFC PGM3 EDA ECM1 FECH NFKB2 LHCGR COL7A1 CD247 FCGR2B SDHC GJB2 GP1BB LAMA3 KRT1 KIF11 SH3PXD2B CLEC7A IL2RG TARS1 EXTL3 MCCC2 SEC24C FLG NLRP3 STING1 EGFR PIGA TNFRSF1A CYBB HLA-DPB1 KRT10 ABCA12 HLA-C CDK10 ABCA12 IL17F CDH23 IKBKG GJB6 BTD IL17RA GTF2E2 FOXC2 PRF1 IL17RA JMJD1C UFD1 AGA CTLA4 ADA RAG1 TGM1 CARMIL2 PSTPIP1 LYST BTD POLE ERCC2 WAS CYBA SPINK5 CTLA4 HLA-DRB1 LMBRD1 LIPN TRAF6 RNU4ATAC IGHM TBX1 CD79A CCBE1 IL7 NIPAL4 PTPN22 SMARCA2 KRT14 LYST TKT HLA-B PNPLA1 GINS1 SMARCAD1 BTK ZNF341 SCNN1A IL7R EPG5 MS4A2 PIK3CD KRT5 BRAF NCF1 PSMB8 CD28 FCGR2A RAC1 ERCC4 MNX1 KRT10 UROS DSE AIP DDX41 KIT AP1B1 SBDS BLM GJB2 RBCK1 AIRE TNFAIP3 FOXP3 MEFV MSN IL6R CIITA CHST14 TEK MPDU1 ABCC6 GJA1 DNASE1 PRKACA RAG2 HLCS EDARADD HPGD IFIH1 ZAP70 ALOX12B NOD2 RFXANK ESR1 GJB4 H6PD MBTPS2 HYOU1 HPGD MBTPS2 EGFR LACC1 ELANE PSMB9 TBCK PGM3 IL7R HLA-DQB1 UBAC2 FLI1 TCIRG1 MYD88 LBR LMBRD1 POMP RBP4 KIT CYP4F22 HLA-B SPINK5 FAT4 ESR1 MORC2 RAG1 RNASEH2C RBM8A GTF2H5 AUTS2 PAH SPTA1 FLT4 SHOC2 NFKB2 PEPD MYD88 MIF RFX5 CYBC1 CYP4F22 CCBE1 PSMB4 IRAK1 JAK3 LIG4 POLR3A TMC6 TGM5 FGFR2 ERAP1 TNFRSF1B CSTA PRMT7 RAG2 CTLA4 EFL1 CIITA MYSM1 PRTN3 BTK GATA1 RNASEH2B DCLRE1C ZAP70 ANK1 TRPM4 BTNL2 FOXP3 KNSTRN PEPD HSPA9 KRT1 TCF3 IL12A NOD2 SCNN1G ACADVL SAMHD1 DNAJC21 MRTFA WNT4 WNT4 ADA CASR IVNS1ABP NSUN2 LPIN2 RRAS2 IL36RN EPB42 CHST14 IL23R HLA-DPA1 PSEN1 SRP54 TP63 ABCA12 IL10RA PTPN22 DOCK8 HPGD FERMT3 SDHA TMC8 LYZ DCLRE1C RIPK1 KRT5 LIG4 CARD14 AK2 BTNL2 HSD3B2 B2M KLRC4 DNAJC21 IL12A-AS1 SAMHD1 IL2RG PCCA KRT1 CD3G CTSC SIK3 SLC39A4 STAT1 JAK1 USP8 STAT5B NLRP12 ITGB4 RTTN MBL2 NIPAL4 SLC30A2 CHD7 MVK STAT4 SULT2B1 RREB1 SDR9C7 CFI ARVCF SH3PXD2B PDGFRA KRT10 TBX1 NCF4 FERMT1 RFXAP KRT1 NCF2 CD28 DOCK8 LAMC2 ADAR CARD14 TRAF3IP2 IL6 CLEC7A BCL11B CTLA4 NCF1 CD3D ERCC2 ERCC5 DNASE1L3 WAS IL4R SPP1 SPTB IL17F IL6ST STAT3 PNPLA1 LRRC8A SHANK3 IRF2BP2 ALOXE3 PLA2G7 IL17RC LBR ERCC3 IGLL1 CD79B NCF4 KDSR SRD5A3 MTHFD1 PIK3CA BLNK GJC2 NFE2L2 MYSM1 HLA-DRB1 SLCO2A1 RAG2 XIAP CYBB CERS3 NLRP3 MPLKIP CD3E NSMCE3 IL10 TTC7A NLRC4 SLC4A1 TP63 HLCS NAXD NSUN2 KRT17 CASP8 GJB2 AIRE ITGA6 TRAF3IP2 HDAC4 IFIH1 DHCR7 NCF2 RFXANK IL2RA IL2RG MEFV STAT3 CYBC1 WDR1 FGA SMARCC2 TREX1 TTC7A GJB3 ADAM17 BTK WIPF1 GNA11 SUOX STAT3 RNASEH2A COMT TBX1 RFX5 NCSTN C5 DCLRE1C ENPP1 MEFV IL10RB MVK CTSB TGM1 FAS KDF1 LAMB3 APOA1 SLC6A19 ZNF750 PAH ERCC2 ADAMTS3 FLI1 IL1RN RAC1 NOD2 STAT4 SLC29A3 ADA2 TAF1 MBTPS2 LACC1 GATA3 DSG1 AP1S3 ALOX12B EDAR SP110 EBP CYBA TNFRSF1B KRT9 ACP5 TGM1 TLR4 MEIS2 TFRC CARD9 FAM111B PAPSS2 CIB1 NFKB1 NEK9 TREX1 IFNG ELANE POR TNFRSF1A FECH FOXP1 SMARCA2 RFXAP SRP54 C4A UBE2A PSENEN RAG1 TREX1 KANSL1 MMP1 CACNA1G KRT16 PCCB NR3C1 ERCC3 MSMO1 RMRP WAS PTPRC PSTPIP1 SCNN1B KDF1 GFI1 RNF113A ADAM17 CCR1 COX4I2 HIRA PIK3R1 LIG4 IL7R XYLT1 GPR101 GTF2H5 NIPAL4 TGFB1 WIPF1 CASP10 SDHB CTLA4 GJC2 RNU4ATAC TGM1 CTSC HLA-DRB1 FOXN1 STAT1 KIT
Protein Mutations 4
G2545R H2507Q T454A V66M
SNP 1
rs6265