|
Cutis laxa, x-linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By Southern analysis we detected a small deletion in a region 5' to the MNK gene in one patient with OHS.
|
8923001 |
1996 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As the only causal mutation in Atp7a has been reported in one very mild allele thought to be a model for OHS, Atp7aMo-blo (mottled blotchy), we sequenced the entire 4.5 kb coding region of three other mottled mutants, two of which are thought to be models for classical MD (AtpaMo-br, AtpaMo-13H) and one with a slightly milder phenotype (Atp7aMo-vbr).
|
9147645 |
1997 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
|
9246006 |
1997 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified a single exon skipping in the ATP7A transcript in cells from the affected proband, affected cousins and obligate carriers in a family with OHS.
|
9467005 |
1998 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with Menkes syndrome are predicted to have little or no MNK activity, whereas patients with occipital horn syndrome have less severe mutations and some residual MNK activity is predicted.
|
9587146 |
1998 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
|
10739752 |
2000 |
|
Cutis laxa, x-linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The data from the present report support the concepts that (1) OHS results from lower levels of functional ATP7A and (2) ATP7A does not require the dileucine motif to function in copper efflux.
|
11431706 |
2001 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
|
11241493 |
2001 |
|
Cutis laxa, x-linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Small amounts of correctly spliced ATP7A transcript were sufficient to develop the milder OHS phenotype in this patient (OMIM 30001.0006).
|
11936860 |
2001 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The data from the present report support the concepts that (1) OHS results from lower levels of functional ATP7A and (2) ATP7A does not require the dileucine motif to function in copper efflux.
|
11431706 |
2001 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease and occipital horn syndrome (OHS) are allelic neurogenetic disorders of copper transport associated with mutations in an X-linked gene, ATP7A.
|
12537648 |
2002 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease and occipital horn syndrome (OHS) are allelic disorders of copper transport caused by defects in a X-linked gene (ATP7A) that encodes a P-type ATPase that transports copper across cellular membranes, including the trans-Golgi network.
|
12594858 |
2003 |
|
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early development of occipital horns in a classical Menkes patient.
|
15372525 |
2004 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.
|
15238919 |
2004 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The findings suggest that neurologic sparing in untreated occipital horn syndrome is associated with approximately 30% residual functional activity of ATP7A.
|
17108763 |
2006 |
|
Cutis laxa, x-linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The findings suggest that neurologic sparing in untreated occipital horn syndrome is associated with approximately 30% residual functional activity of ATP7A.
|
17108763 |
2006 |
|
Cutis laxa, x-linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
|
17496194 |
2007 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.
|
20170900 |
2010 |
|
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.
|
20170900 |
2010 |
|
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
These findings indicate that ATP7A has a crucial but previously unappreciated role in motor neuron maintenance, and that the mechanism underlying ATP7A-related distal motor neuropathy is distinct from Menkes disease and OHS pathophysiology.
|
21221114 |
2011 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations.
|
21208200 |
2011 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Partial ATP7A gene duplication was identified in 20 unrelated patients including one patient with Occipital Horn Syndrome (OHS).
|
22074552 |
2011 |