Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kabuki syndrome (KS) is commonly caused by mutations in the histone modifying enzyme KMT2D.
|
31816409 |
2020 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.
|
31814321 |
2020 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kabuki syndrome (KS) is a disorder of epigenetic dysregulation due to heterozygous mutations in KMT2D or KDM6A, genes encoding a lysine-specific methyltransferase or demethylase, respectively.
|
31654559 |
2020 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using the Xenopus model system we find that Kmt2d loss-of-function recapitulates major features of Kabuki syndrome including severe craniofacial malformations.
|
31813957 |
2020 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified a de novo, pathogenic KMT2D variant (c.6295C > T; p.R2099X) using trio whole-exome sequencing in a 2-year-old female with lobar holoprosencephaly, microcephaly and cranio-facial features of Kabuki syndrome.
|
31846209 |
2020 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a 34-year-old male patient with a novel variant in KMT2D gene, which finally ended a quest for a diagnosis that was clinically suspected in the past, prior the molecular basis of Kabuki Syndrome (KS) was known.
|
30282051 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a patient with features of Kabuki syndrome who carries two rare heterozygous variants in KMT2D: c.12935C>T, p.(Ser4312Phe) and c.15785-10T>G.
|
31268616 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in controls (Control-MVs), 584 somatic MVs in cancers (Cancer-MVs) and 201 MV in individuals with KS (KS-MVs).
|
30459467 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methylase (KMT2D) or an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A).
|
31587141 |
2019 |
Kabuki make-up syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thus, Xenopus Kmt2d morphants can be a valuable tool to elucidate the etiology of the congenital heart defects associated with Kabuki syndrome.
|
30980591 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline mutations in the KMT2D gene are known to cause Kabuki syndrome (OMIM 147920), a developmental multisystem disorder.
|
31282990 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Diagnosis of KS was established after whole exome sequencing (WES) and detection of de novo frameshift 1bp deletion in histone-lysine N-methyltransferase 2D gene (KMT2D).
|
30213761 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
KMT2D variants (associated with Kabuki syndrome postnatally) occurred in two cases.
|
30293990 |
2019 |
Kabuki make-up syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We propose that the mutated KMT2D gene contributes to the development of both KS and BL observed in our patient and we suggest that strict surveillance must be performed in KS patients.
|
30569626 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular diagnoses of KS were established by identification of pathogenic variants in KMT2D (n = 5) and KDM6A (n = 4).
|
29907798 |
2019 |
Kabuki make-up syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Taken together, these findings demonstrate that Kmt2d regulates vasculogenesis and angiogenesis, provide evidence for interactions between Kmt2d and Notch signaling in Kabuki Syndrome, and suggest future directions for clinical research.
|
31479440 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kabuki (Niikawa-Kuroki) syndrome (KS) is caused by disease-causing variants in either of two components (KMT2D and KDM6A) of the histone methylation machinery.
|
30767315 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we have investigated brain abnormalities in 6 patients with KS (4 males; M<sub>age</sub> = 10.96 years, SD = 2.97 years) with KMT2D mutation in comparison with 26 healthy controls (17 males; M<sub>age</sub> = 10.31 years, SD = 2.96 years).
|
30497982 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis at that age revealed the presence of a KMT2D gene mutation, and the patient was diagnosed with KS.
|
30950893 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We hereby describe a case of bilateral congenital glaucoma associated with MLL2-mutation KS.
|
30676414 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most KS patients possess two genetic subtypes: KMT2D-associated, autosomal-dominant KS type 1 (KS1; OMIM 147920); and KDM6A-associated, X-linked-dominant KS type 2.
|
30556359 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
KMT2D mutations have also been implicated in Kabuki syndrome, which features a distinct facial appearance, skeletal abnormality, growth retardation and intellectual disability.
|
31228576 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Kabuki syndrome 1 (KS1) is a Mendelian disorder of the epigenetic machinery caused by mutations in the gene encoding KMT2D, which methylates lysine 4 on histone H3 (H3K4).
|
31557133 |
2019 |
Kabuki make-up syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations with a loss-of-function in the KMT2D gene on chromosome 12 in humans are responsible for Kabuki syndrome (KS).
|
30891914 |
2019 |
Kabuki make-up syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Together, our findings support a model in which loss of KMT2D function suppresses expression of oxygen-responsive gene programs important to neural progenitor maintenance, resulting in precocious neuronal differentiation in a mouse model of KS1.
|
31465303 |
2019 |