| Saethre-Chotzen syndrome: a case report. | |
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MedLine Citation:
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PMID: 19860490 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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William A Peña; Anne Slavotinek; Snehlata Oberoi |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association Volume: 47 ISSN: 1545-1569 ISO Abbreviation: Cleft Palate Craniofac. J. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-30 Completed Date: 2010-12-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9102566 Medline TA: Cleft Palate Craniofac J Country: United States |
Other Details:
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Languages: eng Pagination: 318-21 Citation Subset: D; IM |
Affiliation:
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Division of Pediatric Dentistry, Department of Orofacial Sciences, School of Dentistry, University of California at San Francisco, San Francisco, California, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acrocephalosyndactylia
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genetics* Child Female Humans Mutation / genetics Nuclear Proteins / genetics* Phenotype Twist Transcription Factor / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Nuclear Proteins; 0/TWIST1 protein, human; 0/Twist Transcription Factor |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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