Franceschetti syndrome

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Abstract

Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS). It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

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Most cited references 23

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The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.

Jill Dixon, B C Valdez, Tobias D. Henning … (2004)

Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle. Even though the genetic alterations causing TCS have been uncovered, the mechanism underlying its pathogenesis and the function of treacle remain unknown. Here, we show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF). Immunofluorescence labeling shows treacle and UBF colocalize to specific nucleolar organizer regions and cosegregate within nucleolar caps of actinomycin d-treated HeLa cells. Biochemical analysis shows the association of treacle and UBF with chromatin. Immunoprecipitation and the yeast two-hybrid system both suggest physical interaction of the two nucleolar phosphoproteins. Down-regulation of treacle expression using specific short interfering RNA results in inhibition of ribosomal DNA transcription and cell growth. A similar correlation is observed in Tcof(+/-) mouse embryos that exhibit craniofacial defects and growth retardation. Thus, treacle haploinsufficiency in TCS patients might result in abnormal development caused by inadequate ribosomal RNA production in the prefusion neural folds during the early stages of embryogenesis. The elucidation of a physiological function of treacle provides important information of relevance to the molecular dissection of the biochemical pathology of TCS.

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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.

SJ Edwards, J Dixon (1996)

Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, which has been localized to chromosome 5q32-33.1. In the present study, the isolation of new polymorphic markers has allowed the identification of overlapping recombination events in two affected individuals. Extension of the transcription map of the critical region proximally has resulted in the isolation of a new gene (which has been named Treacle) of unknown function. The identification of different mutations in five unrelated families, all of which would result in premature termination of the predicted protein, indicates that the Treacher Collins syndrome gene has been positionally cloned.

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The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).

D Poswillo (1975)

Numerous synonyms have been used to describe syndromes affecting structures derived from the first and second branchial arches. These conditions are most conveniently grouped into the asymmetrical anomalies of hemifacial microsomia and the symmetrical syndrome of mandibulofacial dysostosis. By examination of animal models of these conditions it can be demonstrated that the pathogenesis is distinct but different for each group. The characteristic facies of mandibulofacial dysostosis suggests a mechanism of malformation which operates early in embryogenesis, acting uniformly on parts which are derived from neural crest cells. In the serial examination of a phenocopy of mandibulofacial dysostosis, induced in the rat by the teratogen vitamin A, focal death of pre-otic neural crest cells is observed to occur, creating both a spatial rearrangement of the developing ears and a paucity of ectomesenchyme in the first and second branchial arches. The result of these deviations from normal morphogenesis is the development of a facial skeleton which is symmetrical but distinctly different in form from that in the normal animal. Microscopic study of the induced ear and jaw defects revealed that the animal model was closely comparable in all respects to human mandibulofacial dysostosis. The specific nature of the interaction between teratogen and migrating neural crest cells is not yet clear; nor is it known whether these cells are attacked before or after their specific destination is determined. The greater part of the damage is inflicted in a general fashion and leads to symmetrical abnormal development. Minor examples of dyssymmetry do occur, however, in the animal model and man, but these are compatible with the hypothesis of a pathogenetic mechanism which is initiated centrally and symmetrically but modified locally at a later stage. A description of the pathogenesis of these two conditions, scientific predictions can be made with respect to the timing and technique of reconstruction of the orofacial defects, and the effects of surgery on growth and development.

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Author and article information

Journal

Journal ID (nlm-ta): Contemp Clin Dent

Journal ID (publisher-id): CCD

Title: Contemporary Clinical Dentistry

Publisher: Medknow Publications Pvt Ltd (India )

ISSN (Print): 0976-237X

ISSN (Electronic): 0976-2361

Publication date (Print): Jul-Sep 2011

Volume: 2

Issue: 3

Pages: 245-248

Affiliations

[1] Department of Oral Medicine and Radiology, Rural Dental College, Loni, Maharashtra, India

Author notes

Correspondence: Dr. Vikrant Kasat, Department of Oral Medicine and Radiology, Rural Dental College, Loni- 413 736, Maharashtra, India. E-mail: drvikrantkasat@ 123456rediffmail.com

Article

Publisher ID: CCD-2-245

DOI: 10.4103/0976-237X.86480

PMC ID: 3214538

PubMed ID: 22090774

SO-VID: 7fabb055-20d0-4df3-9578-7601d346bc66

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Franceschetti syndrome

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Most cited references 23

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.

The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).

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