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Report for Mutation A2215D

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Congenital Hypothyroidism Due to Thyroglobulin Mutations in an Inbred Brazilian Family: A Novel Compound Heterozygous Constellation and Intronic Mutation Related to Fetal Goiter.

The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.

NCT00493103 Congenital Hypothyroidism
MeSH: Congenital Hypothyroidism Hypothyroidism
HPO: Congenital hypothyroidism Hypothyroidism

Congenital Hypothyroidism Congenital Hypothyroidism Hypothyroidism Congenital goitrous hypothyroid is commonly linked to thyroglobulin (TG) gene mutations.We aim to identify mutations in the TG gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.Four related patients with congenital goiter hypothyroidism from an inbred family were studied.Recombinant human TSH stimulation test, DNA sequencing and protein computer analysis were performed.We identified a novel compound heterozygous constellation (IVS30+1G>T/A2215D) in two siblings. --- A2215D ---

The recent described mutation A2215D is located in the ACHE-like domain, which functions as a dimerization domain, facilitating efficient intracellular transport of the protein. --- A2215D ---

Protein computer analysis suggested that the A2215D mutation causes TG structural alterations.A novel compound heterozygous constellation (IVS30+1G>T/A2215D) and the previously described mutation (IVS30+1G>T) that cause severe congenital hypothyroidism due to defective TG synthesis have been identified. --- A2215D ---

Protein computer analysis suggested that the A2215D mutation causes TG structural alterations.A novel compound heterozygous constellation (IVS30+1G>T/A2215D) and the previously described mutation (IVS30+1G>T) that cause severe congenital hypothyroidism due to defective TG synthesis have been identified. --- A2215D --- --- A2215D ---



HPO Nodes


Hypothyroidism
Genes 311
UBR1 CLPB TBC1D24 BAZ1B HNF1B TMEM67 BCOR OPA1 LIG4 OTX2 WFS1 POU3F4 GAS1 RAI1 TRNL1 NNT LHX4 SLC16A2 HSD17B3 ND4 IQSEC2 RFC2 TGIF1 TREX1 CDON POU1F1 WDR11 RERE DACT1 SALL1 PROKR2 PIK3CA PAX8 DNAH1 THRA SLC26A4 XRCC4 LRP4 PTRH2 ALX4 TWNK LEPR TRNQ TBX1 IYD PCSK1 GTF2IRD1 PROP1 HESX1 TRNN FOXI1 PMM2 FGF8 MARS1 ENPP1 C1QBP ARNT2 GPC1 CDON DISP1 CDH23 TSHR RBM28 BRAF IFNG GLI3 SOX3 ITCH BMP4 FOXA2 TBX1 NKX2-1 STAT1 CTNS CACNA1C LHX3 ALG8 HIRA TRIP13 B3GLCT CEP57 KIAA0556 MLXIPL HSD17B3 DEAF1 KDM6A LEP CLIP2 TSC1 CTNNB1 TRNF PTEN FUCA1 LHX3 ELN BUB1B GLIS3 PDE4D LIG4 PAX8 PLVAP FLCN KMT2D GLI2 PTCH1 TRAPPC9 BUB3 TSC1 LEPR IFIH1 SLC25A4 DUOX2 FUT8 KISS1R EXOSC2 DNM1L TBL2 ALMS1 ROBO1 PDGFB AIP WFS1 DCAF17 POU1F1 FANCI ELN PIK3C2A SRY ARVCF MC2R SEC24C IL2RG SUFU ND6 HESX1 DUOXA2 SETBP1 STEAP3 GNAS KCNJ10 JMJD1C FOXH1 TRNS1 TG ND5 DMXL2 HNF4A KAT6B COMT UFD1 FMR1 EIF2AK3 SUFU LIFR SKI STAT3 TRNL2 TTC37 TSC2 GTF2I TDGF1 TXNRD2 APOE AKT1 SGPL1 WDR4 RAG1 SMARCB1 TRNH MCM8 TF POLG2 PROP1 PRDM16 EXT2 IYD TSC2 NF2 LHX4 BUB1 NNT TSHR PAX8 PIEZO1 FOXP3 DLL1 SLC26A4 TRNL1 NKX2-1 PPP1R15B SLC5A5 LRBA KCNJ10 POLG LHX4 GLI2 ZIC2 TSHR GABRD TRNW ARL6IP6 GP1BB SIX3 POU1F1 DCLRE1C SKIV2L HESX1 NODAL GNAS XRCC4 TRNS2 IL7R STUB1 GATA6 IGSF1 CHD7 SEMA3E DDOST NPHS1 SLC26A4 POMC DUOXA2 ALMS1 TRNS1 LIMK1 TSHB TSHB RAI1 RNASEH2B GNE STAT1 SRD5A3 FOXP3 FBLN5 AIRE TRH PDE4D SHH TPO HPD TPO IL2RA GPR161 HLA-DRB1 KAT6B FGFR1 COX1 PROP1 FDX2 TRHR ACP5 SAA1 SOX3 STAR MRAP DNAJC19 NKX2-5 ND1 SCN4A FOXE1 CHD7 ADAR TG TRNW SLC26A4 COX3 EFEMP2 RREB1 MEN1 RNASEH2C FOXE1 LHX4 TANGO2 NKX2-1 NKX2-5 RNASEH2A ADAMTSL1 ZBTB20 GCH1 NKX2-5 COX2 PAX8 FLII LIG4 DUOX2 RRM2B FMR1 RAG2 PLAA HBB ABCC6 BTNL2 SALL1 NIN ADA KCNAB2 DUOX2 CEP57 PROP1 CP TBX1 RMRP APC SLC5A5 PRKAR1A TSHR GATA1 TONSL SAMHD1 PHF21A FOXI1
Congenital hypothyroidism
Genes 30
DUOX2 B3GLCT TXNRD2 TBC1D24 PLAA MC2R GATA6 KDM6A STAR MRAP NNT GLIS3 PDE4D NNT KMT2D PAX8 TSHB DUOX2 FOXE1 TRAPPC9 THRA NKX2-1 NKX2-5 ADAMTSL1 PRKAR1A PDE4D TSHR NKX2-1 TONSL ZBTB20