Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Homeobox-Protein Nkx-2.5

Das NKX2-5-Gen kodiert einen TRanskriptionsfaktor, der eine wichtige Rolle bei der Ontogenese des Herzens und der Schilddrüse spielt. Mutationen führen zu verschiedenen kardialen Anomalien und zu autosomal dominanter kongenitaler Hypothyreose ohne Struma 5.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Atriumseptumdefekt 7 mit AV-Leitungsstörung
NKX2-5
Konotrunkaler Herzfehler
NKX2-5
Hypoplastisches Linksherzsyndrom 2
NKX2-5
Kongenitale Hypothyreose ohne Struma 5
NKX2-5
Fallot-Tetralogie
NKX2-5
Ventrikelseptumdefekt 3
NKX2-5

Referenzen:

1.

Pease WE et. al. (1976) Familial atrial septal defect with prolonged atrioventricular conduction.

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2.

Lyons I et. al. (1995) Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5.

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3.

Shiojima I et. al. (1995) Assignment of cardiac homeobox gene CSX to human chromosome 5q34.

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4.

Komuro I et. al. (1993) Csx: a murine homeobox-containing gene specifically expressed in the developing heart.

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5.

Himmelbauer H et. al. (1994) High-resolution genetic analysis of a deletion on mouse chromosome 17 extending over the fused, tufted, and homeobox Nkx2-5 loci.

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6.

None (1993) The gene tinman is required for specification of the heart and visceral muscles in Drosophila.

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7.

Kostrzewa M et. al. (1996) Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35.

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8.

Turbay D et. al. (1996) Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx.

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9.

Schott JJ et. al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5.

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10.

Basson CT et. al. (1999) Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

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11.

Pauli RM et. al. (1999) Ventricular noncompaction and distal chromosome 5q deletion.

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12.

Benson DW et. al. (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

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13.

Kasahara H et. al. (2000) Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease.

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14.

Hosoda T et. al. (1999) Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient.

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15.

Hiroi Y et. al. (2001) Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.

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16.

Goldmuntz E et. al. (2001) NKX2.5 mutations in patients with tetralogy of fallot.

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17.

Habets PE et. al. (2002) Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation.

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18.

Youssoufian H et. al. (2002) Mechanisms and consequences of somatic mosaicism in humans.

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19.

Watanabe Y et. al. (2002) Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.

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20.

None (2003) Somatic gene mutation and human disease other than cancer.

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21.

McElhinney DB et. al. (2003) NKX2.5 mutations in patients with congenital heart disease.

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22.

Jay PY et. al. (2004) Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system.

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23.

Pashmforoush M et. al. (2004) Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block.

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24.

Reamon-Buettner SM et. al. (2004) Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

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25.

Hirayama-Yamada K et. al. (2005) Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

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26.

Inga A et. al. (2005) Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.

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27.

Reamon-Buettner SM et. al. (2006) HEY2 mutations in malformed hearts.

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28.

Dentice M et. al. (2006) Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.

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29.

Gutierrez-Roelens I et. al. (2006) A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

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30.

Moskowitz IP et. al. (2007) A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development.

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31.

Mommersteeg MT et. al. (2007) Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium.

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32.

Yadava RS et. al. (2008) RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.

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33.

Nimura K et. al. (2009) A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome.

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34.

Rauch R et. al. (2010) Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

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35.

Stallmeyer B et. al. (2010) Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.

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36.

Chen Y et. al. (2010) A novel mutation of GATA4 in a familial atrial septal defect.

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37.

De Luca A et. al. (2011) New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.

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38.

Mahlaoui N et. al. (2011) Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.

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39.

Peng T et. al. (2010) Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

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40.

Wang J et. al. (2011) A novel NKX2-5 mutation in familial ventricular septal defect.

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41.

Koss M et. al. (2012) Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module.

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42.

Bolze A et. al. (2013) Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

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43.

Schulkey CE et. al. (2015) The maternal-age-associated risk of congenital heart disease is modifiable.

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