Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

CHARGE-Syndrom

Das CHARGE-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im CHD7- und eventuell auch im SEMA3E-Gen hervorgerufen werden kann. Der klassische Symptomenkomplex enthält Kolobom, Herzfehler, Choanalatresie, retardiertes Wachstum und Entwicklung, hypoplastische Genitalien, Ohr-Anomalien mit Schwerhörigkeit.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Akro-reno-okuläres Syndrom
Autosomal dominantes Robinow-Syndrom 1
BMP7
BNAR-Syndrom
Branchio-okulo-faziales Syndrom
Branchio-oto-renale Dysplasie
Branchiootische Syndrom
CHARGE-Syndrom
CHD7
TBX18
CHD1L
Denys-Drash-Syndrom
Fraser-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Hirnmalformation mit Urogenitaldefekten
IVIC-Syndrom
Ivemark-Syndrom
Kabuki-Syndrom
Kongenitale Anomalien der Niere und des Harntraktes 1
Kongenitale Anomalien der Niere und des Harntraktes 2
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
Lakrimo-aurikulo-dento-digitales Syndrom
Mowat-Wilson-Syndrom
Neigung zu zystischen Nierenfehlbildung
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Simpson-Golabi-Behmel-Syndrom
Smith-Lemli-Opitz-Syndrom
Somatisches Nephroblastom
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Urofaziales Syndrom
Vesicoureteraler Reflux
WAGR-Syndrom

Referenzen:

1.

Tellier AL et. al. (2000) Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

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2.

Martin DM et. al. (2001) CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).

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3.

Lalani SR et. al. (2004) SEMA3E mutation in a patient with CHARGE syndrome.

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4.

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

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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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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.

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

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18.

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

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19.

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

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20.

Hittner HM et. al. () Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome.

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21.

None (1979) Choanal atresia and associated multiple anomalies.

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22.

Abruzzo MA et. al. (1977) A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis.

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23.

Kushnick T et. al. (1992) Agonadism in a 46,XY patient with CHARGE association.

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24.

Hurst JA et. al. (1991) Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.

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25.

Bialer MG et. al. (1990) The CHARGE association.

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26.

Lin AE et. al. (1990) Central nervous system malformations in the CHARGE association.

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27.

Blake KD et. al. (1990) Who's in CHARGE? Multidisciplinary management of patients with CHARGE association.

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28.

Davenport SL et. al. (1986) The spectrum of clinical features in CHARGE syndrome.

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29.

Meinecke P et. al. (1989) Limb anomalies in the CHARGE association.

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30.

Hurst JA et. al. (1989) Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.

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31.

Ivarsson SA et. al. (1988) CHARGE-association with pulmonary stenosis.

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32.

Oley CA et. al. (1988) A reappraisal of the CHARGE association.

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33.

Cyran SE et. al. (1987) Spectrum of congenital heart disease in CHARGE association.

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34.

Metlay LA et. al. (1987) Familial CHARGE syndrome: clinical report with autopsy findings.

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35.

Davenport SL et. al. (1986) CHARGE syndrome. Part I. External ear anomalies.

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36.

Goldson E et. al. (1986) The CHARGE association. How well can they do?

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37.

Pagon RA et. al. (1981) Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.

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38.

Koletzko B et. al. (1984) Congenital anomalies in patients with choanal atresia: CHARGE-association.

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39.

North KN et. al. (1995) CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).

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40.

Wyse RK et. al. (1993) Congenital heart disease in CHARGE association.

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41.

Van Meter TD et. al. (1996) Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism.

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42.

Harris J et. al. (1997) Epidemiology of choanal atresia with special reference to the CHARGE association.

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43.

Tellier AL et. al. (1996) Increased paternal age in CHARGE association.

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44.

Tellier AL et. al. (1998) CHARGE syndrome: report of 47 cases and review.

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45.

Devriendt K et. al. (1998) Deletion in chromosome region 22q11 in a child with CHARGE association.

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46.

Källén K et. al. (1999) CHARGE Association in newborns: a registry-based study.

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47.

Wheeler PG et. al. (2000) Hypogonadism and CHARGE association.

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48.

Issekutz KA et. al. (2005) An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study.

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49.

None (2005) Updated diagnostic criteria for CHARGE syndrome: a proposal.

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50.

Vervloed MP et. al. (2006) CHARGE syndrome: relations between behavioral characteristics and medical conditions.

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51.

Writzl K et. al. () Immunological abnormalities in CHARGE syndrome.

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52.

Blake KD et. al. (2008) Cranial nerve manifestations in CHARGE syndrome.

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53.

Wincent J et. al. (2008) CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.

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54.

Alazami AM et. al. (2008) Expanding the "E" in CHARGE.

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55.

Jongmans MC et. al. (2009) CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

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56.

Gage PJ et. al. (2015) Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.

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