|
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 |
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 |
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 |
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
|
30088855 |
2018 |
|
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 |
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
|
30088855 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
|
28250421 |
2017 |
|
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 |
|
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 |
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome.
|
28449295 |
2017 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed.
|
27605097 |
2016 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
BEFREE |
Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed.
|
27605097 |
2016 |
|
KBG syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
De novo genic mutations among a Chinese autism spectrum disorder cohort.
|
27824329 |
2016 |
|
KBG syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic aspects of KBG syndrome.
|
27667800 |
2016 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Herein, we discuss a Korean family with KBG syndrome, as identified by ANKRD11 gene mutation.
|
25464108 |
2015 |
|
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 |