SNPMiner Trials by Shray Alag


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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 Atopic Dermatitis Ichthyosis Vulgaris 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 475
DOCK8 MPLKIP LBR RAG1 DSG1 IL17F EDAR BLNK ESR1 EPB42 MVK CD79A LYZ IL36RN STAT3 TP63 SUOX RNASEH2C MEFV IRF2BP2 APOA1 IL12A-AS1 CTLA4 SLC6A19 PCCB FOXN1 FLI1 ELANE ZAP70 RAG2 ADA2 STAT3 KRT14 KRT5 HSD3B2 GNA11 BTK CCR1 ITGA6 TTC7A KANSL1 IL6 KLRC4 SRD5A3 SHOC2 PSTPIP1 NCF4 LPIN2 DCLRE1C ERCC3 TMC6 NOD2 CTLA4 NLRP3 SHANK3 GJA1 RNF113A SMARCA2 CYBC1 CACNA1G CHST14 KIT HSPA9 KRT16 GINS1 MYSM1 PCCA FLI1 LACC1 CERS3 CD3G ACADVL TREX1 NSMCE3 AGA IL10RB C4A MNX1 NOD2 ARVCF RAG2 ABCA12 NFKB2 TFRC TRPM1 SPINK5 DSE NCF4 LYST RAG1 LAMB3 FLG KRT10 PLA2G7 TAF1 TEK PIK3CA IL2RG B2M PTPN22 TNFAIP3 SPP1 VEGFC RNASEH2B HLA-DPB1 RFXAP ERCC2 ERCC4 DCLRE1C ANK1 MBTPS2 CARD11 UFD1 C5 FAS SH3PXD2B RFXANK RAC1 TGM1 IL12A LPIN2 NLRC4 CD3D FCGR2B FLT4 WIPF1 IL2RG CTSB SRP54 CTLA4 LMBRD1 NCF2 MEIS2 TRAF3IP2 FOXP1 ALOX12B CARD14 TGFB1 CD3E NCF1 KRT9 CSTA MSMO1 COMT PNPLA1 CIB1 SCNN1G STAT4 WAS RMRP PRKACA JMJD1C IL23R CFI ERCC3 FERMT3 ERAP1 ENPP1 PSTPIP1 AUTS2 HIRA BTD ADAR GJC2 LAMC2 ESR1 IFIH1 NCSTN TGM1 KDF1 TBX1 GJB4 NEK9 NSUN2 JAK3 H6PD RAC1 ERCC2 TGM1 GJB3 SBDS HPGD DNAJC21 ECM1 IGLL1 IRAK1 ABCA12 PRTN3 CYBB TCIRG1 SMARCAD1 HLA-B FECH TARS1 SULT2B1 MEFV SH3PXD2B FOXP3 RNU4ATAC SLC4A1 BTK RFXANK RNASEH2C CLEC7A POLR3A IL17RA TBX1 CCBE1 DCLRE1C PSMB4 CIITA ABCC6 COL5A2 FGA NCF1 IL2RA TGM1 NIPAL4 HDAC4 SEC24C PAH ADA NSUN2 PEPD WIPF1 LMBRD1 WAS MS4A2 PRMT7 COL7A1 FGFR2 XYLT1 TNFRSF1B LIPN STAT1 SCNN1B RAG1 SMARCC2 TNFRSF1B PAH SDR9C7 NLRP12 MYD88 MYSM1 CYBA RNU4ATAC SDHB KIT WNT4 GLUL RTTN SPTB KRT17 IL17RC KRT10 CHST14 PDGFRA NIPAL4 LHCGR SCNN1A TREX1 RIPK1 SLCO2A1 IGHM TTC7A LAMA3 CYP4F22 GTF2H5 SLC29A3 ADAM17 EDA NOD2 HLCS TBCK HYOU1 ITGB4 SDHC NFE2L2 SMARCA2 IL4R RREB1 TRAF6 SAMHD1 NAXD LBR HLA-C GPR101 DOCK8 GTF2H5 BTNL2 HLA-DRB1 KRT1 GTF2E2 NLRP3 ZNF341 RFXAP MSN CD28 LIG4 CARD9 STAT3 IL7R GJB2 CTSC NIPAL4 AIP SP110 POMP TNFRSF1A UBAC2 MBTPS2 PIGA PTPRC NFKB2 ZAP70 MORC2 IKBKG MTHFD1 LIG4 SLC39A4 CARMIL2 UBE2A EGFR TMC8 CTSC AP1S3 ADA POLE BCL11B EXTL3 PNPLA1 GJB6 ABCA12 CCBE1 AK2 CTLA4 ALOXE3 HLA-DPA1 TREX1 LRRC8A EBP GP1BB TLR4 CYP4F22 TRAF3IP2 MVK FAM111B GFI1 SAMHD1 ALOXE3 ERCC5 FOXP3 KDF1 KIT HPGD HLCS KRT1 ELANE PSMB9 LIG4 RBCK1 PSEN1 EDARADD CD247 STAT1 RAG2 HLA-DRB1 WAS GJC2 CASP10 EPG5 KRT1 XIAP DNASE1L3 DHCR7 RBP4 IL10 BRAF CIITA MIF AIRE AIRE STAT4 MBL2 TP63 GJB2 DNAJC21 UROS COX4I2 RFX5 KRT1 HLA-B ADAMTS3 CDH23 COL5A1 BTNL2 FOXC2 PTPN22 CYBA PGM3 IL17RA KRT10 SRP54 ERCC2 GJB2 TBX1 CD79B CHD7 MPDU1 CD28 CASR IL7R KRT5 PSENEN IL2RG POR ALOX12B NFKB1 IL10RA KIF11 STING1 NCF2 CARD14 COL1A1 ZNF750 SIK3 NR3C1 KDSR PEPD SPTA1 RBM8A DNASE1 DDX41 IL6ST IL17F FERMT1 TCF3 TNFRSF1A CYBB PIK3R1 IL1RN CDK10 CTLA4 GATA3 AP1B1 RNASEH2A TGM5 SDHA LYST HLA-DQB1 HLA-DRB1 CASP8 IL7R HPGD BTK SPINK5 TKT MBTPS2 LACC1 CLEC7A BTD IFIH1 RFX5 WNT4 MCCC2 FCGR2A FAT4 GATA1 FECH USP8 PGM3 SLC30A2 EFL1 IL7 PAPSS2
Protein Mutations 4
G2545R H2507Q T454A V66M
SNP 1
rs6265