Condition: GRACILE SYNDROME (disorder)
rs1057516518 in
BCS1L gene and
GRACILE SYNDROME (disorder)
PMID 19285991 2009 Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain.
PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
PMID 24236502 2014 A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
PMID 28105683 2017 Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.
PMID 25895478 2015 Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
rs28937590 in
BCS1L;ZNF142 gene and
GRACILE SYNDROME (disorder)
PMID 12215968 2002 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.
PMID 25914718 2015 Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
rs121908572 in
ZNF142;BCS1L gene and
GRACILE SYNDROME (disorder)
PMID 23892085 2013 Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.
PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
PMID 24655110 2014 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.
PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
PMID 20518024 2010 Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.
PMID 22277166 2012 BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.
PMID 12910490 2003 Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.