Abnormal Basiocciput Development in CHARGE Syndrome

Fujita, Kazutoshi; Aida, Noriko; Asakura, Yumi; Kurosawa, Kenji; Niwa, Tomoyuki; Muroya, Koji; Adachi, Masanori; Nishimura, Gen; Inoue, Toyoko

doi:10.3174/ajnr.a1380

Cited by 29 publications

(37 citation statements)

References 29 publications

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“…These skull base anomalies consisted of a J‐shaped sella and a dorsal angulation of the clivus. These findings confirm the findings of Fujita et al (2009) and are consistent with the preliminary results of a study in which we analyzed the clivus of 23 confirmed patients with CHARGE on MRI or CT scans. We found that the vast majority had an abnormal clivus (Figure 2) [yet unpublished data].…”

Section: Diagnostic Value Of Cranial Imagingsupporting

confidence: 93%

“…The guidelines we present here for cranial imaging in patients with CHARGE syndrome are based on previously published neuro‐radiologic recommendations (Asakura et al, 2008; Bergman, Janssen, et al, 2011b; Fujita et al, 2009; Gregory et al, 2013; Pinto et al, 2005; Vesseur, Free, et al, 2016a) in addition to current insights in detectable neuro‐radiologic abnormalities and anatomic variants in patients with CHARGE syndrome (see Table 3). …”

Section: Overview Of Guidelines and Recommendations From Literaturementioning

confidence: 99%

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Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Geus

Free

Verbist

et al. 2017

American J of Med Genetics Pt C

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“CHARGE syndrome” is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist. We also identified a gap in literature when reviewing all guidelines and recommendations, and we propose a guideline for neuroradiological evaluation of patients with CHARGE syndrome. This is of importance, as patients with CHARGE are at risk for peri‐anesthetic complications, making recurrent imaging procedures under anesthesia a particular risk in clinical practice. However, comprehensive cranial imaging is also of tremendous value for timely diagnosis, proper treatment of symptoms and for further research into CHARGE syndrome. We hope the guideline for neuroradiological evaluation will help clinicians provide efficient and comprehensive care for individuals with CHARGE syndrome.

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Section: Diagnostic Value Of Cranial Imagingsupporting

confidence: 93%

Section: Overview Of Guidelines and Recommendations From Literaturementioning

confidence: 99%

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Geus

Free

Verbist

et al. 2017

American J of Med Genetics Pt C

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“…Basioccipital hypoplasia has also been reported to be common in CHARGE syndrome, with the CHD7 gene thought to have a role in neural crest development. 22 Two of the patients with CHARGE syndrome had an abnormal clivus, and all 3 had dysmorphic brain stems. The olfactory nerves, regional facial structures, and skull base are derived from the cranial neural crest, and the association may explain the incidence of facial and skull base abnormalities present in this patient population.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies

Booth

Rollins

2016

American Journal of Neuroradiology

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“…In this article, we give an overview of all CHD7 missense variants reported in the literature before 15 June 2011 [Asakura et al, 2008;Bartels et al, 2010;Bergman et al, 2011a, b;Dauber et al, 2010;De Arriba Munoz et al, 2011;Delahaye et al, 2007;Felix et al, 2006;Feret et al, 2010;Fujita et al, 2009;Gao et al, 2007;Holak et al, 2008;Jongmans et al, 2006Jongmans et al, , 2008Jongmans et al, , 2009Kim et al, 2008;Lalani et al, 2006;Pauli et al, 2012;Vissers et al, 2004;Vuorela et al, 2007;Wessels et al, 2010;Wincent et al, 2008] and the variants that were reported in the NCBI Single Nucleotide Polymorphism database (http://www.ncbi.nlm.nih.gov/SNP, dbSNP build 132) with frequency data (n = 104, Supp. Table S1).…”

Section: Inclusion Of Chd7 Missense Variantsmentioning

confidence: 99%

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

et al. 2012

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CHARGE syndrome is characterized by the variable occurrence of multisensory impairment, congenital anomalies, and developmental delay, and is caused by heterozygous mutations in the CHD7 gene. Correct interpretation of CHD7 variants is essential for genetic counseling. This is particularly difficult for missense variants because most variants in the CHD7 gene are private and a functional assay is not yet available. We have therefore developed a novel classification system to predict the pathogenic effects of CHD7 missense variants that can be used in a diagnostic setting. Our classification system combines the results from two computational algorithms (PolyPhen-2 and Align-GVGD) and the prediction of a newly developed structural model of the chromo-and helicase domains of CHD7 with segregation and phenotypic data. The combination of different variables will lead to a more confident prediction of pathogenicity than was previously possible. We have used our system to classify 145 CHD7 missense variants. Our data show that pathogenic missense mutations are mainly present in the middle of the CHD7 gene, whereas benign variants are mainly clustered in the 5 and 3 regions. Finally, we show that CHD7 missense mutations are, in general, associated with a milder phenotype than truncating mutations.

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Abnormal Basiocciput Development in CHARGE Syndrome

Cited by 29 publications

References 29 publications

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

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