Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome.
|
29215649 |
2018 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
|
19483581 |
2009 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although about one hundred different TWIST1 mutations have been reported in patients with the dominant haploinsufficiency Saethre-Chotzen syndrome (typically associated with craniosynostosis), substitutions uniquely affecting the Glu117 codon were not observed previously.
|
28369379 |
2017 |
Saethre-Chotzen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
|
19373776 |
2009 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, complete gene deletions of TWIST have also been found in a significant proportion of patients with Saethre-Chotzen syndrome.
|
12116251 |
2002 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
|
16251895 |
2006 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation was found in TWIST, a gene associated with Saethre-Chotzen syndrome (SCS).
|
11754069 |
2001 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a previously undescribed TWIST1 gene mutation in patients with SCS.
|
20184424 |
2010 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To date, our detection rate for TWIST or FGFR mutations is 68% in our Saethre-Chotzen syndrome patients, including our five patients elsewhere reported with TWIST mutations.
|
9585583 |
1998 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mice heterozygous for a null mutation of the Twist gene replicate certain features of Saethre-Chotzen syndrome, but have not been reported to exhibit craniosynostosis.
|
12221714 |
2002 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
FISH and dosage-sensitive Southern blot analysis are useful diagnostic tools in Saethre-Chotzen syndrome without TWIST sequence variation.
|
11280946 |
2001 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This distance is more significantly altered in FGFR-related brachycephaly syndromes (especially Crouzon and Pfeiffer syndromes), than Saethre-Chotzen syndrome (TWIST1 mutation) and isolated non-syndromic bicoronal synostosis.
|
29290519 |
2018 |
Saethre-Chotzen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
|
19755431 |
2010 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A Twist in fate: evolutionary comparison of Twist structure and function.
|
11992718 |
2002 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits.
|
8988167 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre-Chotzen syndrome.
|
26289989 |
2015 |
Saethre-Chotzen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits.
|
8988167 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A specific genetic etiology can be identified in ∼21% of cases, including mutations of TWIST1, which encodes a class II basic helix-loop-helix (bHLH) transcription factor, and causes Saethre-Chotzen syndrome, typically associated with coronal synostosis.
|
23354436 |
2013 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells.
|
11350121 |
2001 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thus, we propose that TCF12 screening should be included for TWIST1 negative SCS patients and in patients where the coronal suture is affected.
|
25271085 |
2015 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
|
9792856 |
1998 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The TWIST gene indeed is involved in Saethre-Chotzen syndrome, a craniosynostosis syndrome further characterized by specific facial and limb abnormalities.
|
15099347 |
2004 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |