|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
On the background of previously published patients we describe a proband initially considered as presenting with a severe PMD, whose diagnosis of AHDS due to a novel nonsense SLC16A2 mutation unraveled two previously undiagnosed generations of affected males who died in infancy from unexplained reasons.
|
27234264 |
2016 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel MCT8 mutation (S290F) in 4 generations of a family with Allan-Herndon-Dudley Syndrome.
|
26426690 |
2015 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.
|
25527620 |
2015 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
BEFREE |
A three-and-a-half-year-old male with clinical and biochemical AHDS phenotype and a history of normal neonatal screening for hypothyroidism underwent SLC16A2 molecular analysis.
|
25517855 |
2015 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We describe a novel MCT8 mutation (S290F) in 4 generations of a family with Allan-Herndon-Dudley Syndrome.
|
26426690 |
2015 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
BEFREE |
As SLC16A2 encodes the monocarboxylate transporter 8 (MCT8), a thyroid hormone transporter, patients with Allan-Herndon-Dudley syndrome present a specific altered thyroid hormone profile.
|
25380603 |
2015 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.
|
25527620 |
2015 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MCT8 mutations cause an X-linked syndromic disorder known as Allan-Herndon-Dudley syndrome (AHDS) that is characterized by severe psychomotor delays, abnormal thyroid function, and hypomyelinated leukodystrophies.
|
25896225 |
2015 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We report a patient with Allan-Herndon-Dudley syndrome characterized by developmental delay, hypotonia, and delayed myelination caused by a novel SLC16A2 mutation (p.L291R).
|
25380603 |
2015 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MCT8 are associated with the Allan-Herndon-Dudley syndrome (AHDS), characterized by severe psychomotor retardation and altered serum thyroid parameters.
|
25247785 |
2014 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MCT8 result in the Allan-Herndon-Dudley syndrome, comprising severe psychomotor retardation and elevated serum T3 levels.
|
25389909 |
2014 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The importance was better documented by the phenotype observed in patients harboring mutations of the monocarboxylate transporter 8 (MCT8) gene immediately linked to Allan-Herndon-Dudley syndrome, in which severe neurological findings are associated with abnormal TH levels.
|
25231447 |
2014 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The role of Arg445 and Asp498 in the human thyroid hormone transporter MCT8.
|
24265446 |
2014 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
|
24847459 |
2014 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.
|
25160547 |
2014 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
|
24721225 |
2014 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two mutations; one previously reported missense mutation (c.1111C > T), and one novel frameshift mutation (c. 990_991insGCTGC) were identified in SLC16A2, a gene that has been linked to Allan-Herndon-Dudley syndrome (AHDS).
|
24721225 |
2014 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TH transporter, monocarboxylate transporter 8 (MCT8), are associated with AHDS.
|
23161551 |
2013 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
To study the functional consequences of different MCT8 mutations in detail, we combined functional analysis in different cell types with live-cell imaging of the cellular distribution of seven mutations that we identified in patients with AHDS.
|
23550058 |
2013 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MCT8 gene coding for the monocarboxylate thyroid hormone transporter 8 have been associated with AHDS.
|
23419639 |
2013 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MCT8 gene are associated with Allan-Herndon-Dudley Syndrome (AHDS), consisting of severe psychomotor retardation and disturbed TH parameters.
|
23550058 |
2013 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hemizygous MCT8 mutations in males cause severe psychomotor retardation, known as the Allan-Herndon-Dudley syndrome (AHDS), and abnormal serum TH levels.
|
23392090 |
2013 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A partial deletion of the MCT8 gene (comprising five of six exons) was detected, confirming the suspected AHDS.
|
21896621 |
2011 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Monocarboxylate transporter 8 (MCT8 or SLC16A2) mutations cause X-linked Allan-Herndon-Dudley syndrome.
|
21098685 |
2011 |
|
Allan-Herndon-Dudley syndrome (AHDS)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here we describe in detail the clinical and biochemical features in a boy affected by AHDS with severe neurological abnormalities and a novel de novo SLC16A2 gene insertion, 1343-1344insGCCC, resulting in a truncated protein lacking the last four transmembrane domains (TMDs) as well as the carboxyl cytoplasmic end.
|
20713192 |
2011 |