Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

CHARGE syndrome

CHARGE syndrome is an autosomal dominant disorder caused by mutations of the genes CHD7 and SEMA3E. Clinical features typically include coloboma, choanal atresia, cranial nerve dysfunction, ear anomalies.

Systematic

Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BMP7
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
CHD7
SEMA3E
TBX18
CHD1L
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome

References:

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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57.

Orphanet article

Orphanet ID 138 [^]
58.

OMIM.ORG article

Omim 214800 [^]
59.

Wikipedia article

Wikipedia EN (CHARGE_syndrome) [^]
Update: April 29, 2019