Mutation update on the CHD7 gene involved in CHARGE syndrome (Q28263190)

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27 January 2020

title

Mutation update on the CHD7 gene involved in CHARGE syndrome (English)

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27 January 2020

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27 January 2020

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27 January 2020

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27 January 2020

Lies H Hoefsloot

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27 January 2020

Nicole Janssen

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27 January 2020

Lisbeth Tranebjaerg

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27 January 2020

Marianne Lodahl

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27 January 2020

Jeroen Schoots

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27 January 2020

Conny M A van Ravenswaaij-Arts

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27 January 2020

language of work or name

English

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publication date

16 April 2012

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27 January 2020

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27 January 2020

volume

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27 January 2020

issue

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27 January 2020

page(s)

1149-1160

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Temporal bone CT findings in the CHARGE association

27 January 2020

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Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

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Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

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Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.

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CHD7 cooperates with PBAF to control multipotent neural crest formation

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Mutations in the CHD7 gene: the experience of a commercial laboratory

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CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

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Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

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Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

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Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome

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CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).

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Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes

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CHD7 gene and non-syndromic cleft lip and palate.

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Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.

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CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation

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CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

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Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

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CHD proteins: a diverse family with strong ties

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New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene

21 January 2018

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Congenital T cell deficiency in a patient with CHARGE syndrome

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Labyrinthine malformation in the 22q11.2 deletion syndrome

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Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

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The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.

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Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

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Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

21 January 2018

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CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

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CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features

21 January 2018

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Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

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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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Exclusion of PITX2 mutations as a major cause of CHARGE association.

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Chromatin remodeling in development and disease: focus on CHD7.

21 January 2018

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Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome

21 January 2018

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Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome

21 January 2018

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Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation.

21 January 2018

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Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 January 2018

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Proven germline mosaicism in a father of two children with CHARGE syndrome

21 January 2018

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A CGH study of 27 patients with CHARGE association

21 January 2018

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

21 January 2018

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CHARGE syndrome: an update

21 January 2018

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Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns

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21 January 2018

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21 January 2018

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Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

21 January 2018

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A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features

21 January 2018

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Speculations on the pathogenesis of CHARGE syndrome.

21 January 2018

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CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

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Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype

21 January 2018

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Radial aplasia in CHARGE syndrome: a new association

21 January 2018

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Immunological abnormalities in CHARGE syndrome

21 January 2018

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Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome

21 January 2018

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CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis

21 January 2018

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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

21 January 2018

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Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome

21 January 2018

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CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

21 January 2018

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A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation

21 January 2018

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Defects in vestibular sensory epithelia and innervation in mice with loss ofChd7 function: Implications for human CHARGE syndrome

21 January 2018

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7 January 2021

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

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7 January 2021

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome

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7 January 2021

Isolation of the left subclavian artery from the pulmonary artery in a patient with CHARGE association

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7 January 2021

Unilateral agenesis of the internal carotid artery in CHARGE syndrome

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Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies

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7 January 2021

Deletion in chromosome region 22q11 in a child with CHARGE association.

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7 January 2021

Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly

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7 January 2021

Scoliosis in CHARGE: a prospective survey and two case reports

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7 January 2021

Abnormal basiocciput development in CHARGE syndrome

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7 January 2021

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism

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7 January 2021

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

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7 January 2021

SOX2 and CHD7 cooperatively regulate human disease genes

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7 January 2021

Complete DiGeorge syndrome associated with CHD7 mutation

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7 January 2021

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

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7 January 2021

Updated diagnostic criteria for CHARGE syndrome: a proposal

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7 January 2021

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

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7 January 2021

A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype

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7 January 2021

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22086

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json