|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.
|
22277166 |
2012 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
In addition to the Björnstad syndrome, BCS1L mutations cause complex III deficiency and the GRACILE syndrome, which in neonates are lethal conditions that have multisystem and neurologic manifestations typifying severe mitochondrial disorders.
|
17314340 |
2007 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
|
25895478 |
2015 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the rather homogenous population of Finns seems to have a specific BCS1L mutation that, as homozygous state, causes GRACILE syndrome, whereas other mutations are rare or not occurring.
|
18386115 |
2008 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
|
24236502 |
2014 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants.
|
12215968 |
2002 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Interestingly, the British and Turkish patients had complex III deficiency, whereas in the Finnish patients with GRACILE syndrome complex III activity was within the normal range, implying that BCS1L has another cellular function that is uncharacterized but essential and is putatively involved in iron metabolism.
|
12215968 |
2002 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain.
|
19285991 |
2009 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
|
26489029 |
2016 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
|
11528392 |
2001 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
In addition to the Björnstad syndrome, BCS1L mutations cause complex III deficiency and the GRACILE syndrome, which in neonates are lethal conditions that have multisystem and neurologic manifestations typifying severe mitochondrial disorders.
|
17314340 |
2007 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
|
12910490 |
2003 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
In addition to the Björnstad syndrome, BCS1L mutations cause complex III deficiency and the GRACILE syndrome, which in neonates are lethal conditions that have multisystem and neurologic manifestations typifying severe mitochondrial disorders.
|
17314340 |
2007 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.
|
20518024 |
2010 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Interestingly, the British and Turkish patients had complex III deficiency, whereas in the Finnish patients with GRACILE syndrome complex III activity was within the normal range, implying that BCS1L has another cellular function that is uncharacterized but essential and is putatively involved in iron metabolism.
|
12215968 |
2002 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome.
|
24655110 |
2014 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
BCS1L gene mutation causing GRACILE syndrome: case report.
|
24655110 |
2014 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
A combination of lactacidosis, liver involvement, and Fanconi type renal tubulopathy is common when the complex III assembly factor BCS1L harbors mutations, the most severe disease with consistent genotype-phenotype correlation being the GRACILE syndrome.
|
21680270 |
2011 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.
|
28105683 |
2017 |
|
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.
|
23892085 |
2013 |
|
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.
|
19389488 |
2009 |
|
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
|
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
|
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |