Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Chromodomain-Helikase-DNA-Bindungsprotein 7

Das CHD7-Gen kodiert eine DNA-Bindungsprotein, welches verschiedenen Helikase-ähnliche Domainen enthält. Ob das Protein selbst als Helikase fungiert ist nicht sicher. Mutationen sind für die autosomal dominanten Erkrankungen CHARGE-Syndrom und kongenitalen hypogonadotropen Hypogonadismus mit Anosmie 5 verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

CHARGE-Syndrom
CHD7
TBX18
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
CHD7

Referenzen:

1.

Nagase T et. al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.

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2.

Vissers LE et. al. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

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3.

Jongmans MC et. al. (2006) CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

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4.

Sanlaville D et. al. (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

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5.

Bosman EA et. al. (2005) Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.

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6.

Lalani SR et. al. (2006) Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

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7.

Félix TM et. al. (2006) CHD7 gene and non-syndromic cleft lip and palate.

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8.

Udaka T et. al. (2007) An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome.

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9.

Gao X et. al. (2007) CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

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10.

Delahaye A et. al. (2007) Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

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11.

Van de Laar I et. al. (2007) Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.

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12.

Jongmans MC et. al. (2008) Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.

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13.

Bergman JE et. al. () Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

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14.

Kim HG et. al. (2008) Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

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15.

Vuorela PE et. al. (2008) A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.

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16.

Layman WS et. al. (2009) Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.

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17.

Pleasance ED et. al. (2010) A small-cell lung cancer genome with complex signatures of tobacco exposure.

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18.

Bajpai R et. al. (2010) CHD7 cooperates with PBAF to control multipotent neural crest formation.

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19.

Batsukh T et. al. (2010) CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

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20.

Zentner GE et. al. (2010) CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.

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21.

Melicharek DJ et. al. (2010) Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome.

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22.

Engelen E et. al. (2011) Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

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23.

Pauli S et. al. (2012) CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

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24.

Tilley MK et. al. (2013) CHD7 gene polymorphisms and familial idiopathic scoliosis.

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25.

Schulz Y et. al. (2014) CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

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26.

Van Nostrand JL et. al. (2014) Inappropriate p53 activation during development induces features of CHARGE syndrome.

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