|
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 |
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 |
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 |
BEFREE |
We propose updated diagnostic criteria/clinical recommendations for KBG syndrome and suggest that inclusion of ANKRD11 will increase the utility of gene panels designed to investigate developmental delay.© 2016 The Authors.
|
27667800 |
2016 |
|
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 |
Biomarker
|
disease |
BEFREE |
Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed.
|
27605097 |
2016 |
|
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 |
Biomarker
|
disease |
BEFREE |
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
|
25424714 |
2015 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
This patient provided additional evidence on the influence of ANKRD11 in KBG syndrome and suggested that deletion limited to ANKRD11 is unlikely to cause autism.
|
25187894 |
2014 |
|
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 |
Biomarker
|
disease |
BEFREE |
In addition, microdeletion of 16q24.3, including ANKRD11, has been reported to result in the KBG syndrome phenotype.
|
25464108 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
ANKRD11 thus serves as a candidate tumor suppressor gene and it has been speculated that its haploinsufficiency may lead to an increased cancer risk in KBG syndrome patients.
|
29696793 |
2018 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
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 |