|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MLS syndrome is genetically heterogeneous given that heterozygous mutations in HCCS or COX7B have been identified in MLS-affected females.
|
25772934 |
2015 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We characterized the X-chromosomal abnormality encompassing HCCS or an intragenic mutation in this gene in six new female patients with an MLS phenotype by cytogenetic analysis, fluorescence in situ hybridization, sequencing, and quantitative real-time PCR.
|
24735900 |
2014 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
|
23239471 |
2013 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Microphthalmia with linear skin defects syndrome (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by microphthalmia or other ocular anomalies and skin lesions limited to the face and neck.
|
23401659 |
2013 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HCCS on the C-terminal side of the CP motifs, known to cause disease states in humans (microphthalmia with linear skin defects) abolished or drastically attenuated holocytochrome c production.
|
21907713 |
2011 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed DNA sequencing of PORCN in 13 female patients with the clinical diagnosis of FDH as well as four female patients with MLS syndrome and no mutation in HCCS.
|
19277062 |
2009 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, we recently described heterozygous sequence alterations in a single gene, HCCS, in females with MLS.
|
17845869 |
2008 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To analyze if mutations in HCCS, encoding the mitochondrial holocytochrome c-type synthase, are associated with phenotypes other than the microphthalmia with linear skin defects (MLS) syndrome, including severe eye malformations such as microphthalmia and/or anophthalmia.
|
17893649 |
2007 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
|
17033964 |
2006 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
|
17033964 |
2006 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
|
17033964 |
2006 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
|
17033964 |
2006 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
|
17033964 |
2006 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We did obtain a single heterozygous deleted female that does not express human HCCS, which is analogous to the low prevalence of the heterozygous MLS deletion in humans.
|
12444108 |
2002 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
We believe the spectrum of clinical features seen in females with MLS and the paucity of male patients are consistent with significant involvement of HCCS.
|
11827457 |
2002 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
This supports the notion that functional absence of the MLS gene caused by inactivation of the normal X chromosome plays a pivotal role in the development of MLS in patients with Xp22 monosomy.
|
9737776 |
1998 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
Biomarker
|
disease |
BEFREE |
The human holocytochrome c-type synthetase (HCCS) gene is located on Xp22.3 and is one of the genes identified in a 450-Kb region deleted in the neurodevelopmental disorder microphthalmia with linear skin defects.
|
9674913 |
1998 |
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
MICROPHTHALMIA, SYNDROMIC 7
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Microphthalmos
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
In our case, we describe a newborn with mosaic deletion encompassing HCCS gene resulting in unilateral microphthalmia and facial skin lesions.
|
30068298 |
2018 |
|
Microphthalmos
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Microphthalmia with linear skin lesions (MLS) is an X-linked dominant male-lethal disorder associated with mutations in holocytochrome c-type synthase (HCCS), which encodes a crucial player of the mitochondrial respiratory chain (MRC).
|
23122588 |
2012 |
|
Microphthalmos
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Identification of the novel missense mutation p.E159K of HCCS, which leads to loss-of-function of the encoded holocytochrome c-type synthase, in a sporadic female patient with microphthalmia of both eyes and bilateral sclerocornea may suggest HCCS as candidate for severe ocular manifestations.
|
17893649 |
2007 |