|
Kabuki make-up syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome.
|
29902804 |
2018 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Additionally, owing to the heterogeneous nature of Kabuki syndrome, a smaller number of diagnosed patients have been identified with mutations or deletions in KDM6A (a component of the same transcriptional complex as KMT2D) with no mutations in KMT2D, or as those diagnosed with Kabuki syndrome and without alterations in either KMT2D or KDM6A.
|
27568880 |
2016 |
|
Kabuki make-up syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Kabuki make-up syndrome
|
0.800 |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in <i>KMT2D/MLL2</i> and <i>KDM6A/UTX</i>, two interacting chromatin modifier responsible respectively for 56-75% and 5-8% of the cases.
|
29283410 |
2017 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Exonic deletions, disrupting the lysine (K)-specific demethylase 6A (KDM6A) gene have been demonstrated as rare cause of KS.
|
27028180 |
2016 |
|
Kabuki make-up syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes.
|
22197486 |
2012 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of such MLL2 mutations in KS may be comparable with deletions involving KDM6A.
|
22901312 |
2013 |
|
Kabuki make-up syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel.
|
27302555 |
2016 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS.
|
29482518 |
2018 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of KDM6A point mutations associated with KS.
|
23076834 |
2013 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
|
22840376 |
2012 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes.
|
26841933 |
2016 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes.
|
22197486 |
2012 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.
|
31727177 |
2019 |
|
Kabuki make-up syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A.
|
29536651 |
2018 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that less than 5% cases of Kabuki syndrome are due to KDM6A mutations.
|
24527667 |
2015 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we review all currently available literature describing KS-like phenotypes (or phenocopies) associated with genetic variants located in loci different from KMT2D and KDM6A .
|
28139835 |
2018 |
|
Kabuki make-up syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The same was true for both gene mutation KMT2D versus KDM6A and for GH deficiency versus non-GH deficiency KS children (p < 0.05).
|
28793284 |
2017 |
|
Kabuki make-up syndrome
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MLL2 and KDM6A cause Kabuki syndrome.
|
23913813 |
2013 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes.
|
29307790 |
2018 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the last decade, mutations in KMT2D and KDM6A were identified as a major cause of kabuki syndrome.
|
30497982 |
2019 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 40 individuals clinically diagnosed with KS for mutations in KMT2D and KDM6A.
|
25972376 |
2015 |