|
rs144610914
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report on the identification of novel compound heterozygous variants (p.Y503C and p.Q485<sup>*</sup>) in the centrosomal gene <i>PIBF1</i> in a patient with JS via trio whole exome sequencing.
|
30858804 |
2019 |
|
rs367600930
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The point mutations V194A and A199P, which cause Joubert syndrome (JS) and Jeune asphyxiating thoracic dystrophy (JATD), respectively, both reduce the thermostability of the second C2 domain by targeting residues that point toward its hydrophobic core.
|
29847808 |
2018 |
|
rs863225135
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin.
|
29334628 |
2018 |
|
rs1378981995
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, ARL13B-c.[223G>A] (p.(Gly75Arg) displayed a marked loss of ARL3 guanine nucleotide-exchange factor activity, with retention of its GTPase activities, highlighting the correlation between its loss of function as an ARL3 guanine nucleotide-exchange factor and Joubert syndrome.
|
29255182 |
2017 |
|
rs752037863
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, ARL13B-c.[223G>A] (p.(Gly75Arg) displayed a marked loss of ARL3 guanine nucleotide-exchange factor activity, with retention of its GTPase activities, highlighting the correlation between its loss of function as an ARL3 guanine nucleotide-exchange factor and Joubert syndrome.
|
29255182 |
2017 |
|
rs771866500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the detailed clinical phenotypes of two sisters with a novel homozygous variant in INPP5E (NM_019892.4: c.1565G>C, NP_063945.2: p.Gly552Ala), expanding the phenotype associated with Joubert syndrome type 1.
|
29052317 |
2017 |
|
rs780163791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By whole-exome sequencing (WES) in a consanguineous family with congenital non-syndromic deafness, we unexpectedly identified a homozygous nonsense variant, p.Arg1066*, in AHI1, a gene associated with Joubert syndrome (JBTS), a severe recessive ciliopathy.
|
25616960 |
2015 |
|
rs121434350
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein).
|
23532844 |
2013 |
|
rs397514726
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein).
|
23532844 |
2013 |
|
rs886039282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our analysis resulted in the identification of a homozygous p.N1060S missense mutation in a highly conserved residue in KIF7, a regulator of Hedgehog signaling that has been recently found to be causing Joubert syndrome, fetal hydrolethalus and acrocallosal syndromes.
|
22587682 |
2012 |
|
rs1469312062
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations.
|
17960139 |
2007 |
|
rs755276263
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations.
|
17960139 |
2007 |
|
rs1213286417
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
|
29588463 |
2018 |
|
rs539400286
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
|
29398085 |
2018 |
|
rs11230683
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
|
rs1555531363
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
|
29138412 |
2017 |
|
rs312262818
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
|
28289185 |
2017 |
|
rs376493409
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
|
rs386834048
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
|
rs386834202
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
|
28431631 |
2017 |
|
rs62638179
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
|
rs746068882
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
|
29138412 |
2017 |
|
rs762771340
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
|
29138412 |
2017 |
|
rs766392300
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
|
rs768663992
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
|
28679688 |
2017 |