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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The authors conclude that when using stringent inclusion criteria for studies of Saethre-Chotzen syndrome, patients who have a pathogenic mutation of the TWIST gene should be excluded.
|
15923834 |
2005 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here a de novo prenatal case with clinically and molecularly well defined Saethre-Chotzen syndrome due to a TWIST1 deletion.
|
22569119 |
2012 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Saethre-Chotzen syndrome is an autosomal dominantly inherited disorder caused by mutations in the twist family basic helix-loop-helix transcription factor 1 (TWIST1) gene.
|
29665811 |
2018 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first demonstration that non-coding SNVs of TWIST1 can cause SCS, and highlights the importance of screening the 5' UTR in clinically diagnosed SCS patients without a coding mutation.
|
30040876 |
2018 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in EFNB1 and TWIST1 have been linked to craniofrontonasal and Saethre-Chotzen syndrome, respectively; both present with coronal CS.
|
30651579 |
2019 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
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 |
Small deletions comprising the whole TWIST1 account for a small proportion of patients with Saethre-Chotzen syndrome.
|
21333765 |
2011 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
|
8988166 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have identified Twist target genes using human mutant calvaria osteoblastic cells from a child with Saethre-Chotzen syndrome with a Twist mutation that introduces a stop codon upstream of the bHLH domain.
|
11342579 |
2001 |