Jeune thoracic dystrophy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Herein, we report a 6-mo-old male admitted to hospital with recurrent lung infections, thoracic dystrophy, and respiratory distress that was diagnosed as Jeune syndrome; DYNC2H1 mutation was detected via genetic analysis and ciliary dysfunction was noted via high-speed video microscopy.
|
28257607 |
2018 |
Jeune thoracic dystrophy
|
0.670 |
Biomarker
|
disease |
BEFREE |
Mutations in IFT subunits-including IFT-dynein motor DYNC2H1-impair ciliary structures and Hedgehog signalling, typically leading to "skeletal" ciliopathies such as Jeune asphyxiating thoracic dystrophy.
|
30429209 |
2018 |
Jeune thoracic dystrophy
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
|
29068549 |
2018 |
Jeune thoracic dystrophy
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
|
27925158 |
2017 |
Jeune thoracic dystrophy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 mutations.
|
27925158 |
2017 |
Jeune thoracic dystrophy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
The exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome.
|
26874042 |
2016 |
Jeune thoracic dystrophy
|
0.670 |
GermlineCausalMutation
|
disease |
ORPHANET |
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
|
23339108 |
2013 |
Jeune thoracic dystrophy
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
|
23339108 |
2013 |
Jeune thoracic dystrophy
|
0.670 |
Biomarker
|
disease |
BEFREE |
All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS).
|
24140113 |
2013 |
Jeune thoracic dystrophy
|
0.670 |
GermlineCausalMutation
|
disease |
ORPHANET |
To determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing.
|
23456818 |
2013 |
Jeune thoracic dystrophy
|
0.670 |
GeneticVariation
|
disease |
CLINVAR |
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
|
23339108 |
2013 |
Jeune thoracic dystrophy
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
To determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing.
|
23456818 |
2013 |
Jeune thoracic dystrophy
|
0.670 |
Biomarker
|
disease |
BEFREE |
To determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing.
|
23456818 |
2013 |
Jeune thoracic dystrophy
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
|
22499340 |
2012 |
Jeune thoracic dystrophy
|
0.670 |
CausalMutation
|
disease |
CLINVAR |
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
|
19442771 |
2009 |
Jeune thoracic dystrophy
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
|
19442771 |
2009 |
Jeune thoracic dystrophy
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
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