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Zentrum für Nephrologie und Stoffwechsel
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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.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

CHARGE-Syndrom
CHD7
SEMA3E
TBX18
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
CHD7

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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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.

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

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11.

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

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12.

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

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13.

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

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14.

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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15.

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

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16.

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

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17.

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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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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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25.

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

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26.

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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27.

Orphanet article

Orphanet ID 119389 external link
28.

NCBI article

NCBI 55636 external link
29.

OMIM.ORG article

Omim 608892 external link
Update: 14. August 2020
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