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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
This is a confirmatory case report providing further evidence for TWIST1 haploinsufficiency in SCS, although a possible role of PTP-oc as genetic factor underlying or at least influencing the development of craniosynostosis could not be a priori excluded.
|
21708297 |
2011 |
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 |
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 |
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 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
|
14513358 |
2003 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Classical SCS associated with a TWIST 1 mutation could be separated phenotypically from the Muenke phenotype on the basis of the following features: low-set frontal hairline, gross ptosis of eyelids, subnormal ear length, dilated parietal foramina, interdigital webbing, and hallux valgus or broad great toe with bifid distal phalanx.
|
16251895 |
2006 |
Saethre-Chotzen Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild limb abnormalities.
|
23825006 |
2013 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome.
|
15737130 |
2005 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous TWIST mutations were identified in 8 of 10 patients with Saethre-Chotzen syndrome and in 2 of 43 craniosynostosis patients with no clear diagnosis.
|
9792856 |
1998 |