Atrial Septal Defect 5

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

NKX2-5, PQBP1, GATA4, MYH6, GABRQ, MYT1L, TRIP12, CCN1, NTF3, ACTC1, FOXC1, TBX5, TLL1, PTPN11, PTEN, BMPR1A, SALL4, COMT, NODAL, EVC, B3GLCT, MAP2K1, GATA6, TTN, SHANK3, TRIP13, ABL1, BUB3, SMC3, BAZ1B, CDC45, ARID1A, NAA10, SMC1A, CDK13, SEC24C, EFTUD2, LONP1, ZMPSTE24, GPC6, MED12, RBM8A, WASHC5, FIG4, ZEB2, KIAA0586, TMEM94, SEMA3E, CEP57, TTC37, USP9X, GTF2IRD1, TBX4, RBM10, WT1, MKKS, KMT2D, SOS1, SON, SNRPB, SMN1, SMARCE1, SKIV2L, SCN4A, SALL1, RREB1, RPS17, RPL27, RPL5, RIT1, RFC2, RAF1, STK4, ABCC8, TALDO1, NELFA, SHOC2, KAT6A, PCGF2, ZIC3, XRCC2, CITED2, NSD2, TBX1, CLIP2, KDM6A, UFD1, HIRA, NKX2-1, TBX2, TRAIP, MRAS, MAD2L2, UPF3B, UBE3B, TMEM87B, SLX4, PHF6, BRIP1, CEP290, PALB2, NXN, VAC14, NSD1, STRA6, XYLT2, FANCM, ARHGAP31, ARID1B, KIF15, NEK9, G6PC3, CHST14, MMP21, TTN-AS1, RNU4ATAC, DIPK1A, CTU2, KANSL1, JMJD1C, UBR1, ASXL1, ESCO2, CEP120, CCBE1, GATA5, AMER1, EVC2, B3GALT6, HDAC8, CHD7, SLC19A2, PIGN, TBL2, VPS33B, AUTS2, SETBP1, C2CD3, SH2B1, NIPBL, KAT6B, ASXL2, HAAO, TGDS, SIK3, SPECC1L, RAD51, TXNL4A, KDM5B, NPHP3, CCDC22, UBE2T, SLC25A24, FANCI, SETD5, RFWD3, FANCL, AGGF1, BCOR, NDUFB11, TMCO1, RAB23, OTUD6B, DYNC2LI1, LARP7, DACT1, ZDHHC9, TBX22, RAD51C, STIM1, RAD21, FOXF1, ERCC4, FANCA, FANCC, FANCD2, FANCE, FANCB, FANCF, FANCG, FBN2, FKTN, GPC4, FGFR1, PEX19, FGFR2, FLNB, LETM1, GDF1, GJA1, GPC3, GLI1, GLI3, GP1BB, GPX4, GTF2I, HCCS, HNRNPK, HRAS, HSPA9, HSPG2, KIF11, EP300, ELN, ECE1, DNMT3A, ACTL6A, JAG1, ANK1, ARSD, ARVCF, ATIC, RERE, ATP6V1A, ATP6V1E1, BCR, BMP2, BRCA1, BRAF, BRCA2, BUB1, BUB1B, MYRF, TMEM258, LYST, CHRM3, COL1A1, COL5A1, COL5A2, COX7B, CREBBP, CRKL, CYP11A1, DHCR7, DMD, KRAS, FGFR3, MYH7, MASP1, KMT2A, MMP2, MAP2K2, MMP14, MAPK1, MMUT, NFIX, NOTCH2, LMNA, POR, ROR2, POLA1, PAX3, PCNT, PIGA, PIK3R2, LIMK1, MEIS2, PITX2, SMS, RSS, TBX20, CYP11B2, ACTA2, IL1B, IL18, CRP, WNT1, CNTNAP2, BMP4, CYP1B1, MTHFR, STX18, BDNF, MSX1, SHANK2, ASNS, ACTB, CNTNAP3, MIR499A, ELMOD3, PITX3, SOD1, SIL1, SNAP25, ARSA, MIR486-1, CACNA1C, CAPG, EBPL, LGALS7B, CAT, CCNA2, CDH11, SHROOM3, NUFIP2, POMC, FOXL2, ADO, TARP, ANGPT2, PSD, SLFN14, MAPK3, PTH, SAA1, SAA2, ACTN4, OSR1, RBM45, MIRLET7B, OPN1SW, ACTA1, MIR139, SCN2A, MIR27A, SYTL4, PPP3CA, NEXN, BMPR2, LBX2, RELN, MDD1, LGALS7, CYP2E1, RTN4, COL4A1, HEY2, ZFPM2, MSX2, FOXE3, KDM4C, FMR1, PHB2, WDHD1, MMP3, DGCR6, LZTR1, TSHZ1, GRM5, GRM7, MEFV, MECP2, HLA-DRB1, SMAD4, LRPAP1, AXIN1, HTC2, IL1A, IL4, IL6, CXCL8, ISL1, KLRC2, MYBPC3, VEGFA, NOS3, TGFB1, PCDHGA4, CFC1, CDKL5, PCYT1A, SYN2, CHDH, NRP1, PAX6, HYDIN, PCSK6, DMPK, ARID4B, DPYSL3, PHGDH, TGFBR2, EFNB1, ELK3, PLAC8, OPRD1, TNF, F2, TNFRSF1A, INTU, NPPA, NOTCH3, SUMO1, CERNA3

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A number sign (#) is used with this entry because of evidence that atrial septal defect-5 (ASD5) is caused by heterozygous mutation in the ACTC1 gene (102540) on chromosome 15q14.

For a phenotypic description and discussion of genetic heterogeneity in atrial septal defect, see ASD1 (108800).

Mapping

Matsson et al. (2008) studied 2 large Swedish families segregating autosomal dominant isolated secundum atrial septal defect (ASD) with variable clinical expression. Genotyping with microsatellite markers in 'family 1' revealed a specific haplotype in all affected individuals spanning a 15.1-cM region of chromosome 15q13-q21; analysis of 'family 2' identified a minimal haplotype with significant linkage to ASD consisting of markers GT44248, GATA12322, and ACTC. All affected individuals genotyped had identical allele sizes for the marker haplotype, suggesting a shared ancestral mutation for the 2 families. A 2-point lod score of 4.8 was obtained for marker ACTC, located within intron 4 of the ACTC1 gene.

Molecular Genetics

Matsson et al. (2008) analyzed the ACTC1 gene in 2 large Swedish families segregating autosomal dominant ASD and identified heterozygosity for a mutation (M123V; 102540.0005) in the 20 available affected individuals. The authors studied 408 additional individuals referred for sporadic congenital heart disease and identified a 17-bp deletion in the ACTC1 gene in a 10-year-old girl with secundum ASD (102540.0006); the mutation was also identified in her clinically unaffected 43-year-old father, who was found to have an abnormal echocardiogram with a posteriorly deviated interventricular septum, believed to be associated with a spontaneously closed perimembranous ventricular septal defect, causing aortic valve regurgitation. Neither mutation was found in 580 control samples.