"Saethre–Chotzen syndrome"

Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome Cranial sutures separate the skull bones and house stem cells for bone growth and repair. In Saethre-Chotzen syndrome, mutations in or ablate a specific suture, the coronal. This suture forms at a neural-crest/mesoderm interface in mammals and a mesoderm/mesoderm interface in zebrafish

, located on chromosome 12, was the first syndrome related to a specific chromosome. This condition is associated with myopia, vitreoretinal degeneration, cleft palate, and arthropathy. Next, Van Der Woude syndrome was discovered to be located on chromosome 1. Further work revealed the locations of Treacher Collins syndrome on chromosome 5 and Saethre Chotzen syndrome on chromosome 7.In 1991 the first continues to identify new mutations related to syndromic craniosynostoses. Most recently the gene for Jacobsen syndrome, manifested by trigonocephaly, facial dysmorphism, cardiac and hematologic defects, and mental retardation has been located on chromosome 11q25. The exact locus for mutations causing Saethre-Chotzen syndrome has been found on chromosome 7 and termed the TWIST gene.As genetic links

with sNCS risk in a previous genome-wide association study. We also identified c.313G>T:p.(Glu105*) variant in EFNB1 and c.435G>C:p.(Lys145Asn) variant in TWIST1, both in patients with cNCS. Mutations in EFNB1 and TWIST1 have been linked to craniofrontonasal and Saethre-Chotzen syndrome, respectively; both present with coronal CS. We provide additional evidence that variants in genes implicated

craniosynostotic children, and aimed to investigate whether intracranial volume and occipitofrontal circumference could act as proxy measures for each other. All preoperative Great Ormond Street Hospital patients with a diagnosis of Apert, Crouzon-Pfeiffer, or Saethre-Chotzen syndrome from the year 2004 onward were considered for this study. A control group of unaffected Great Ormond Street Hospital patients

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome Saethre-Chotzen syndrome (SCS), one of the most common forms of syndromic craniosynostosis (premature fusion of the cranial sutures), results from haploinsufficiency of TWIST1, caused by deletions of the entire gene or loss-of-function variants within the coding region. To determine whether non-coding variants

Inhaled nitric oxide mitigates need for extracorporeal membrane oxygenation in a patient with refractory acute hypoxemic respiratory failure due to cardiac and pulmonary shunts We present a case of refractory acute hypoxemic respiratory failure due to influenza B pneumonia with concomitant large intra-atrial shunt (IAS) and severe pulmonary regurgitation in a patient with Saethre-Chotzen syndrome

Recombinant mouse periostin ameliorates coronal sutures fusion in Twist1+/− mice 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. Surgical procedures are frequently required to reduce morphological and functional defects in patients with Saethre-Chotzen syndrome. Therefore , the development of noninvasive procedures to treat Saethre-Chotzen syndrome is critical. We identified that periostin, which is an extracellular matrix protein that plays an important role in both bone and connective tissues, is downregulated in craniosynostosis patients. We aimed to verify the effects of different concentrations (0, 50, 100, and 200 μg/l) of recombinant mouse periostin in Twist1 mice (a mouse

clinically suspected Saethre-Chotzen syndrome. Clinically significant variants were also identified in ALX4, EFNA4, ERF, and FGF10. These findings support the clinical utility of a massively parallel sequencing panel for craniosynostosis. TCF12 and EFNB1 should be included in genetic testing for nonsyndromic coronal craniosynostosis or clinically suspected Saethre-Chotzen syndrome.

group. Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes are the five most common forms of syndromic craniosynostosis. Although each has different genetic underpinnings and associated anomalies, their hallmark finding is turribrachycephaly most often associated with bicoronal craniosynostosis. The role of prenatal screening and counseling is growing, with caregivers becoming involved

was craniofrontonasal dysplasia in 11, frontonasal dysplasia in six, facial cleft in four, and Saethre-Chotzen syndrome in two cases. Median grade of orbital hypertelorism was III. Median age at surgery was 13 years (range, 5 to 17 years). Nontransient change (favorable or unfavorable) in angle of strabismus was noted in 14 patients. Ocular motility was altered in 12. Six patients had stereopsis preoperatively

are rare. The TWIST1 gene is involved in morphogenetics, and deletions are known to cause Saethre-Chotzen syndrome. Deletions of PHF14 have never been reported in neonates, but animal studies have shown a link between severe defects in lung development and deletions of this gene. There have not, to the best of our knowledge, been any publications of a link between the genes TWIST1 and PHF14

Destabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach The bHLH transcription factor TWIST1 plays a key role in the embryonic development and in tumorigenesis. Some loss-of-function mutations of the TWIST1 gene have been shown to cause an autosomal dominant craniosynostosis, known as the Saethre-Chotzen syndrome (SCS). Although

in patients with the dominant haploinsufficiency Saethre-Chotzen syndrome (typically associated with craniosynostosis), substitutions uniquely affecting the Glu117 codon were not observed previously. Recently, subjects with Barber-Say and Ablepharon-Macrostomia syndromes were found to harbor heterozygous missense substitutions in the paralogous glutamic acid residue in TWIST2 (p.Glu75Ala, p.Glu75Gln

Multiple biological functions of Twist1 in various cancers Twist1 is a well-known regulator of transcription during embryonic organogenesis in many species. In humans, Twist1 malfunction was first linked to Saethre-Chotzen syndrome and later identified to play an essential role in tumor initiation, stemness, angiogenesis, invasion, metastasis, and chemo-resistance in a variety of carcinomas

Prevention and management of hearing loss in syndromic craniosynostosis: A case series. To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis. Eleven children with Apert syndrome (n=4), Saethre-Chotzen syndrome (n=3), Muenke syndrome (n=2), Crouzon syndrome (n=1) and Pfeiffer syndrome type 1 (n=1) were submitted to a complete audiologic evaluation

with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF12 molecular

with no detected mutation: one duplication of the IHH regulatory region was identified in a patient with craniosynostosis Philadelphia type and five variants, four novel, were identified in the recently described TCF12, in probands with coronal or multisuture affectation. In the 19 Saethre-Chotzen syndrome (SCS) individuals in whom a variant was detected, 15 (79%) carried a TWIST1 variant, whereas four (21%) had

, and those associated with clefts. Each has a different set of potential complications requiring a unique approach for surgical management. Craniosynostosis is a congenital disorder in which one or more of the cranial sutures fuses prematurely. The most common syndromes associated with this condition include Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes. Surgical management

as significant variation within any given single-suture synostosis. Craniosynostosis can be isolated (i.e., nonsyndromic) or occurs as part of a genetic syndrome (e.g., Crouzon, Pfeiffer, Apert, Muenke, and Saethre-Chotzen syndromes). Approximately 85 % of all cases of craniosynostosis are nonsyndromic. Several recent genomic discoveries are elucidating the genetic basis for nonsyndromic cases and implicate