|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our observations along with the previously published cases indicate that the two types of recessive AOS (EOGT- vs. DOCK6-associated) differ significanty regarding the frequency of neurologic or ocular deficits.
|
31368252 |
2019 |
|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NOTCH1 is the major contributor, underlying 10% of AOS/ACC/TTLD cases, with DLL4 (6%), DOCK6 (6%), ARHGAP31 (3%), EOGT (3%), and RBPJ (2%) representing additional causality in this cohort.
|
29924900 |
2018 |
|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.
|
29631299 |
2018 |
|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the dedicator of cytokinesis 6 (DOCK6) gene, with characteristic findings of ACC, TTLD, intracerebral periventricular calcifications, and polymicrogyria.
|
28884918 |
2017 |
|
Adams-Oliver syndrome 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Similar downregulation of ISG15 in cells from DOCK6 AOS patients indicates that such adaptation can compensate for genetic defects during development.
|
27693507 |
2016 |
|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
DOCK6 mutations were strongly associated with structural brain abnormalities, ocular anomalies, and intellectual disability, thus suggesting that DOCK6-linked disease represents a variant of AOS with a particularly poor prognosis.
|
25824905 |
2015 |
|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in EOGT and DOCK6 cause autosomal-recessive AOS, whereas mutations in ARHGAP31, RBPJ, and NOTCH1 lead to autosomal-dominant AOS.
|
26299364 |
2015 |
|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.
|
26457590 |
2015 |
|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Whole-genome sequencing documented two rare truncating variants in DOCK6, a gene associated with a type of autosomal recessive AOS that recurrently features periventricular calcification and impaired neurodevelopment.
|
25091416 |
2014 |
|
Adams-Oliver syndrome 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we sought to determine the contribution of DOCK6 mutations to the etiology of AOS in several consanguineous families.
|
23522784 |
2013 |
|
Adams-Oliver syndrome 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
These findings, combined with a Dock6 expression profile that is consistent with an AOS phenotype as well as the very recent demonstration of dominant mutations of ARHGAP31 in AOS, establish Cdc42 and Rac1 as key molecules in the pathogenesis of AOS and suggest that other regulators of these Rho GTPase proteins might be good candidates in the quest to define the genetic spectrum of this genetically heterogeneous condition.
|
21820096 |
2011 |
|
Adams-Oliver syndrome 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Adams-Oliver syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Adams Oliver syndrome
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.
|
29631299 |
2018 |
|
Adams Oliver syndrome
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
|
25824905 |
2015 |
|
Adams Oliver syndrome
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.
|
25091416 |
2014 |
|
Adams Oliver syndrome
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
|
21820096 |
2011 |
|
Adams Oliver syndrome
|
0.440 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
|
21820096 |
2011 |
|
Adams Oliver syndrome
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
ADAMS-OLIVER SYNDROME 2
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
|
30898718 |
2019 |
|
ADAMS-OLIVER SYNDROME 2
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
|
25824905 |
2015 |
|
ADAMS-OLIVER SYNDROME 2
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
|
23522784 |
2013 |
|
ADAMS-OLIVER SYNDROME 2
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
|
21820096 |
2011 |
|
ADAMS-OLIVER SYNDROME 2
|
0.410 |
GeneticVariation
|
disease |
CLINVAR |
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
|
21820096 |
2011 |