|
Myasthenic Syndromes, Congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
FADS has been reported to be caused by pathogenic variants in genes previously associated with CMS including these involved in endplate development and maintenance: MuSK, DOK7, and RAPSN.
|
31730230 |
2020 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Moreover, it suggests that RAPSN CMS may be underdiagnosed in non-European countries.
|
30266223 |
2018 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, mutations in RAPSN and COLQ are the most common causes of CMS in our cohort.
|
28024842 |
2017 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since RAPSN-associated limb-girdle type CMS was only manifested in AK9 homozygous variant carriers, the disease phenotype was of digenic inheritance, and was determined by the novel disease modifier AK9 which provides NTPs for N-glycosylation.
|
27966543 |
2017 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser).
|
29054425 |
2017 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We applied IntSplice to a naturally occurring and nine artificial intronic mutations in RAPSN causing congenital myasthenic syndrome.
|
27009626 |
2016 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
|
25792100 |
2015 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study identified two confirmed pathogenic mutations in the RAPSN gene that are associated with congenital myasthenic syndrome (OMIM 608931).
|
25194721 |
2014 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.
|
22326364 |
2012 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Because late-onset congenital myasthenic syndromes (CMSs) due to RAPSN or DOK7 mutations may be mistaken for SNMG, we investigated their frequency in a nationwide SNMG cohort.
|
21305573 |
2011 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
|
20157724 |
2010 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Other AChR subunits alpha1, beta1, and delta (CHRNA1, CHRNB1, CHRND) as well as receptor-associated protein of the synapse (RAPSN) previously revealed missense or compound nonsense-missense mutations in viable congenital myasthenic syndrome; lethality of homozygous null mutations was predicted but never shown.
|
18252226 |
2008 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes.
|
16931511 |
2006 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes.
|
16931511 |
2006 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
Common founder effect of rapsyn N88K studied using intragenic markers.
|
15252722 |
2004 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A sporadic CMS patient from Germany was analyzed for RAPSN mutations by RFLP, long-range PCR and sequence analysis.
|
15482960 |
2004 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
|
15482960 |
2004 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A sporadic CMS patient from Germany was analyzed for RAPSN mutations by RFLP, long-range PCR and sequence analysis.
|
15482960 |
2004 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of RAPSN in two children with congenital myasthenic syndromes with no mutation in any of the AChR subunits identified two heterozygous recessive mutations in each: a previously characterized N88K mutation in both, and a second frameshifting mutation in Patient (Pt) 1 and a nonsense mutation in Pt 2.
|
15036330 |
2004 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the rapsyn promoter revealed a consensus site for the transcription factor Kaiso within a region that is mutated in a subset of patients with congenital myasthenic syndrome.
|
15282317 |
2004 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
|
14729848 |
2004 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
|
12807980 |
2003 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
|
12807980 |
2003 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
|
14504330 |
2003 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Humans with mutations in the rapsyn gene ( RAPSN) are affected with a postsynaptic form of congenital myasthenic syndrome (CMS) characterized by impairment of the morphologic development of the postsynaptic region.
|
12730725 |
2003 |