Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

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.

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

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8.

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

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9.

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

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10.

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

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11.

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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12.

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

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13.

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

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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.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

Orphanet article

Orphanet ID 119389 [^]
28.

NCBI article

NCBI 55636 [^]
29.

OMIM.ORG article

Omim 608892 [^]
Update: 29. April 2019