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Report for Mutation T454A

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 ---

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
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
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
Atopic dermatitis
Genes 9
DOCK8 IFIH1 HSPA9 DOCK8 ZNF341 PGM3 CARD11 NEK9 BRAF
Congenital nonbullous ichthyosiform erythroderma
Genes 18
POMP ABHD5 SPINK5 ALOXE3 GTF2H5 CYP4F22 ALOX12B GBA NIPAL4 ERCC2 GBA ERCC3 ALOXE3 SPINK5 ABHD5 TARS1 LORICRIN TGM1