|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
|
28250421 |
2017 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It remains unknown if deletion of the entire ANKRD11 causes KBG syndrome.
|
22307766 |
2012 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function.
|
21782149 |
2011 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
|
25413698 |
2015 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
|
25413698 |
2015 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and skeletal anomalies.
|
31566922 |
2019 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss.
|
29224748 |
2017 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a patient with clinically confirmed KBG syndrome carrying a de novo 690-kb deletion at 16q24.3 involving part of ANKRD11.
|
23463723 |
2013 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three de novo mutations were identified in ANKRD11 demonstrating a phenotypic overlap with KBG syndrome.
|
25125236 |
2014 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome.
|
28449295 |
2017 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whole genome sequencing (WGS) identified a mutation in the ANKRD11 gene associated with KBG syndrome.
|
30877071 |
2019 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
|
30642272 |
2019 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability.
|
28422132 |
2017 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report on a patient, who showed many manifestations of KBG syndrome and was found to harbor a de novo ANKRD11 mutation, c.362T > A (p.Met121Lys).
|
23369839 |
2013 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
|
24838796 |
2014 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Their features are compared with those of previously reported patients with KBG syndrome aiding in the delineation of neurocognitive phenotype associated to ANKRD11 mutations.
|
23184435 |
2013 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
|
30088855 |
2018 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function.
|
21782149 |
2011 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome.
|
28449295 |
2017 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome.
|
23494856 |
2013 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings demonstrate a novel role for ANKRD11 in neuron differentiation during brain development and suggest an epigenetic modification as a potential key molecular feature underlying KBG syndrome.
|
29274743 |
2018 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
This single-nucleotide duplication is predicted to lead to a premature stop codon and loss of function in <i>ANKRD11,</i> thereby implicating it as contributing to the proband's symptoms and yielding a molecular diagnosis of KBG syndrome.
|
27900361 |
2016 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Herein, we discuss a Korean family with KBG syndrome, as identified by ANKRD11 gene mutation.
|
25464108 |
2015 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
|
28250421 |
2017 |