Postnatal Onset of Craniosynostosis in a Case of Saethre-Chotzen Syndrome

Heer, Inge Marieke de; Hoogeboom, Jeannette; Vermeij‐Keers, Christl; Klein, Annelies de; Vaandrager, J. Michiel

doi:10.1097/00001665-200411000-00034

Cited by 10 publications

(6 citation statements)

References 18 publications

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“…While an X-ray performed at 4-month of age still showed patent COR sutures in a Saethre-Chotzen syndrome child, fusion was reported at 14-month of age (de Heer et al, 2004). …”

Section: Discussionmentioning

confidence: 97%

Craniosynostosis of Coronal Suture in Twist1+/− Mice Occurs Through Endochondral Ossification Recapitulating the Physiological Closure of Posterior Frontal Suture

Behr¹,

Longaker²,

Quarto³

2011

Front. Physio.

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Craniosynostosis, the premature closure of cranial suture, is a pathologic condition that affects 1/2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis. The Saethre-Chotzen syndrome, which is defined by loss-of-function mutations in the TWIST gene, is the second most prevalent craniosynostosis. Although much of the genetics and phenotypes in craniosynostosis syndromes is understood, less is known about the underlying ossification mechanism during suture closure. We have previously demonstrated that physiological closure of the posterior frontal suture occurs through endochondral ossification. Moreover, we revealed that antagonizing canonical Wnt-signaling in the sagittal suture leads to endochondral ossification of the suture mesenchyme and sagittal synostosis, presumably by inhibiting Twist1. Classic Saethre-Chotzen syndrome is characterized by coronal synostosis, and the haploinsufficient Twist1+/− mice represents a suitable model for studying this syndrome. Thus, we seeked to understand the underlying ossification process in coronal craniosynostosis in Twist1+/− mice. Our data indicate that coronal suture closure in Twist1+/− mice occurs between postnatal day 9 and 13 by endochondral ossification, as shown by histology, gene expression analysis, and immunohistochemistry. In conclusion, this study reveals that coronal craniosynostosis in Twist1+/− mice occurs through endochondral ossification. Moreover, it suggests that haploinsufficiency of Twist1 gene, a target of canonical Wnt-signaling, and inhibitor of chondrogenesis, mimics conditions of inactive canonical Wnt-signaling leading to craniosynostosis.

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“…While an X-ray performed at 4-month of age still showed patent COR sutures in a Saethre-Chotzen syndrome child, fusion was reported at 14-month of age (de Heer et al, 2004). …”

Section: Discussionmentioning

confidence: 97%

Craniosynostosis of Coronal Suture in Twist1+/− Mice Occurs Through Endochondral Ossification Recapitulating the Physiological Closure of Posterior Frontal Suture

Behr¹,

Longaker²,

Quarto³

2011

Front. Physio.

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“…Recently, patients with large deletions of chromosome 7p21 have also been described. Although it is an unusual finding for patients with SCS, when large cytogenetically visible deletions of the TWIST1 gene are present, craniofacial abnormalities may be more pronounced, and other, less typical malformations can be seen (Chun et al, 2002; Cai et al, 2003; de Heer et al, 2004; de Heer et al, 2005).…”

mentioning

confidence: 98%

“…Some of the clinical presentations associated with this syndrome include unilateral or bilateral coronal synostosis, brachycephaly, a low frontal hairline, hypertelorism, ptosis, facial asymmetry, small and low-set ears with prominent crura, midface hypoplasia, high-arched palate, deviated nasal septum, broad great toes, syndactyly, clinodactyly, and broad or bifid halluces. Hearing impairment and visual abnormalities are often present, and intelligence may be mildly delayed or normal (Lee et al, 2002; de Heer et al, 2004). The phenotypic expression of SCS is variable, and often the clinical presentation may overlap with that of other craniosynostosis syndromes.…”

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confidence: 99%

“…To date, more than 85 mutations in the TWIST1 gene have been described, most of which comprise intragenic point mutations, small insertions, duplications, or deletions, and all of which may lead to haploinsufficiency of the gene (de Heer et al, 2004; de Heer et al, 2005; Freitas et al, 2006). Recently, patients with large deletions of chromosome 7p21 have also been described.…”

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confidence: 99%

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Saethre-Chotzen Syndrome: A Case Report

Peña

Slavotinek

Oberoi

2010

The Cleft Palate Craniofacial Journal

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Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is a craniosynostosis syndrome inherited in an autosomal dominant manner. Although similar to the other craniosynostosis syndromes in its clinical presentation, this syndrome is caused by a mutation in the TWIST1 gene. The TWIST1 gene product is a transcription factor containing a basic helix-loop-helix (bHLH) domain important in the development of the head and limbs. Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal septum, broad great toes, clinodactyly, and syndactyly. We report a young girl with clinical features of Saethre-Chotzen syndrome who has a previously undescribed sequence variant in the TWIST1 gene, corresponding to p.R191M. The location of the altered amino acid in the Twist-box of TWIST1, the high conservation of this amino acid between different species, and the phenotype of the child all support a pathogenic role for this novel TWIST1 sequence alteration.

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“…19,23 A total of more than 80 different TWIST mutations have been reported to date. 24 Mutations described in the literature include nonsense and missense mutations, translocations, 21 bp duplications, and deletions of the TWIST gene and/or nearby loci. 1,17,[19][20][21]25 Despite the variety of mutation types in the TWIST gene, the only genotype-phenotype correlation described is the distinguishing feature of developmental delay in SaethreChotzen patients with large deletions, possibly defining a new microdeletion syndrome.…”

mentioning

confidence: 99%