Cleft Palate in Kabuki Syndrome: A Report of Six Cases

Iida, Takuya; Park, Susam; Kato, Kogo; Kitano, Ichiko

doi:10.1597/05-174

Cited by 13 publications

(11 citation statements)

References 9 publications

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“…Specifically, the involvement of cranial nerves I, VII, VIII, IX, and/or X are frequently observed in patients with CHARGE syndrome ( Blake et al, 2008 ). The current case presented with right facial nerve palsy, which occurs in 32–50% of patients with CHARGE syndrome ( Blake et al, 2008 ), but has only been reported in one previous study of a patient with KS ( Iida et al, 2006 ). Choanal atresia is another typical symptom identified in 50–60% of patients with CHARGE syndrome ( Blake et al, 1998 ).…”

Section: Discussionmentioning

confidence: 62%

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

et al. 2017

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We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple endocrine deficiency, and unilateral facial nerve palsy. She was clinically diagnosed with typical CHARGE syndrome, but genetic analysis using the TruSight One Sequence Panel revealed a germline heterozygous mutation in KMT2D with no pathogenic CHD7 alterations associated with CHARGE syndrome. Kabuki syndrome is a rare multisystem disorder characterized by five cardinal manifestations including typical facial features, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate intellectual disability, and postnatal growth deficiency. Germline mutations in KMT2D underlie the molecular pathogenesis of 52–76% of patients with Kabuki syndrome. This is an instructive case that clearly represents a phenotypic overlap between Kabuki syndrome and CHARGE syndrome. It suggests the importance of considering the possibility of a diagnosis of Kabuki syndrome even if patients present with typical symptoms and meet diagnostic criteria of CHARGE syndrome. The case also emphasizes the impact of non-biased exhaustive genetic analysis by next-generation sequencing in the genetic diagnosis of rare congenital disorders with atypical manifestations.

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Section: Discussionmentioning

confidence: 62%

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

et al. 2017

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“…Cleft lip/palate has been reported with a variable frequency between 12% and 50% of patients . The clefts are mostly isolated palatal or submucous, while combined cleft lip/palate and isolated cleft lip are rare . Dentition abnormalities, including widely spaced teeth and/or hypodontia, have been frequently reported (53–100%) .…”

Section: Clinical Featuresmentioning

confidence: 99%

“…Whether or not craniosynostosis is more frequent in KS patients than in the general population remains unclear. So far, it has rarely been described in patients with KS but it might be underreported. We have observed a metopic craniosynostosis in 2 of 42 patients with KMT2D mutation (not reported in our previous study).…”

Section: Clinical Featuresmentioning

confidence: 99%

Unmasking Kabuki syndrome

2013

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The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and have at the same time provided evidence for its genetic heterogeneity. In this review, we aim to summarize the current clinical and molecular genetic knowledge on KS, provide genotype-phenotype correlations and propose a strategic clinical and molecular diagnostic approach for patients with suspected KS.

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“…1BD). Additionally, palate and middle ear structures are derived from pharyngeal arches and are affected in KS patients, serving as diagnostic features for the syndrome (2,(4)(5)(6). Zebrafish anterior neurocranium and lower jaw structures are well established models for mammal palate and middle ear development, respectively (33).…”

Section: Kmt2d Zy59 Mutants Exhibit Anomalous Palate Development and mentioning

confidence: 99%

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

Serrano

Demarest

Tone-Pah-Hote

et al. 2018

Preprint

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Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mortality. Seventy percent of Kabuki Syndrome patients have mutations in the histone methyl-transferase KMT2D. However, the underlying mechanisms that drive these congenital disorders are unknown. Here, we generated and characterized a zebrafish kmt2d null mutant that recapitulates the cardinal phenotypic features of Kabuki Syndrome, including microcephaly, palate defects, abnormal ear development and cardiac defects. The cardiovascular defects consist of abnormal aortic arches and hypoplastic ventricle, driven by previously unknown aberrant endocardial and endothelial vasculogenesis. We identify a regulatory link between the Notch pathway and Kmt2d during vasculogenesis and show that pharmacological inhibition of Notch signaling rescues the cardiovascular phenotype in zebrafish Kabuki Syndrome. Taken together these findings demonstrate that Kmt2d regulates vasculogenesis, provide evidence for interactions between Kmt2d and Notch signaling in Kabuki Syndrome, and suggest future directions for clinical research.

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Cleft Palate in Kabuki Syndrome: A Report of Six Cases

Cited by 13 publications

References 9 publications

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

Unmasking Kabuki syndrome

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

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