|
Cutis laxa, x-linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Furthermore, we report on ultrastructural abnormalities including increased collagen diameter, mild elastic fiber abnormalities and multiple autophagolysosomes reflecting the role of lysyl oxidase and defective ATP7A trafficking as pathomechanisms of OHS.
|
31336972 |
2019 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Investigation of RNA isolated from the fibroblasts of eleven patients with no identified mutations was performed, and revealed inclusion of new pseudo-exons into the ATP7A mRNA from three unrelated patients: two patients with OHS and one patient with classical Menkes disease.
|
24002164 |
2014 |
|
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 |
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 |
Mutations in the ATP7A gene may lead to infantile-onset cerebral degeneration (Menkes disease); occipital horn syndrome (OHS), a related but much milder illness; or an adult-onset isolated distal motor neuropathy.
|
29599289 |
2018 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome.
|
24754450 |
2014 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
|
23281160 |
2013 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
The phenotype we report represents a further example of this rare genotype-phenotype correlation and highlights the possible occurrence in SMAX3 of autonomic disturbances, as described for Menkes disease and Occipital Horn Syndrome.
|
31558336 |
2019 |
|
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 |
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 |
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 |
Partial ATP7A gene duplication was identified in 20 unrelated patients including one patient with Occipital Horn Syndrome (OHS).
|
22074552 |
2011 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy.
|
25172213 |
2015 |
|
Cutis laxa, x-linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Despite the deletion, eliminating the first of six metal-binding domains in ATP7A, no signs for Menkes disease or occipital horn syndrome associated with ATP7A mutations were found in male carriers.
|
26242992 |
2016 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding this multitasking molecule are now implicated in at least two other distinctive phenotypes: occipital horn syndrome and ATP7A-related isolated distal motor neuropathy.
|
24735419 |
2014 |
|
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 |