Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
|
24886560 |
2014 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by autozygome filtration.
|
23349226 |
2013 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
|
24886560 |
2014 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation.
|
26490104 |
2016 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report a cohort of 26 patients referred for genetic analysis of Joubert (JBTS) and Meckel-Gruber (MKS) syndromes, two clinically and genetically heterogeneous neurodevelopmental conditions that define a phenotypic spectrum, with MKS at the severe end.
|
26729329 |
2016 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
|
27570071 |
2016 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.
|
16415886 |
2006 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The exclusion of this and the other seven MKS genes in our collection of consanguineous Arab MKS families confirms the existence of two additional MKS loci.
|
21462283 |
2011 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
|
19515853 |
2009 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The secondary aim was to screen for novel mutations in the coding sequence of the MKS1 gene of MKS fetuses and to obtain genotype-phenotype correlations where possible.
|
17935508 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MKS is genetically heterogeneous with six known disease genes: MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, and CC2D2A with the encoded proteins all implicated in the correct function of primary cilia.
|
21110233 |
2011 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation.
|
26490104 |
2016 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
|
17437276 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The coding regions of MKS1 and MKS3 were screened for mutations by direct sequencing in 17 families clinically diagnosed with MKS in the US or The Netherlands.
|
17377820 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland.
|
27377014 |
2016 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our first results indicate that the MKS1 and MKS3 genes are each responsible for about 7% of MKS cases with various mutations in different populations.
|
17397051 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
|
19466712 |
2009 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
|
17397051 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A and RPGRIP1L).
|
21493627 |
2011 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that MKS1 mutations are not restricted to the Caucasian gene pool and suggest further genetic heterogeneity for MKS.
|
17437276 |
2007 |
Meckel syndrome type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS.
|
21763481 |
2011 |
Meckel syndrome type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The effect of superinfection by T4r+ coliphage on the deoxyribonucleeases of induced Escherichia coli Y10.
|
4886560 |
1969 |