Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

doi:10.1038/sj.ejhg.5201260

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Article

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

European journal of human genetics : EJHG - 1 Nov 2004

Teber Ozge Altug, Gillessen-Kaesbach Gabriele, Fischer Sven, Böhringer Stefan, Albrecht Beate, Albert Angelika, Arslan-Kirchner Mine, Haan Eric, Hagedorn-Greiwe Monika, Hammans Christof, Henn Wolfram, Hinkel Georg Klaus, König Rainer, Kunstmann Erdmute, Kunze Jürgen, Neumann Luitgard M, Prott Eva-Christina, Rauch Anita, Rott Hans-Dieter, Seidel Heide, Spranger Stephanie, Sprengel Martin, Zoll Barbara, Lohmann Dietmar R, Wieczorek Dagmar

Abstract excerpt

To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosis of TCS and evaluated the clinical data, including a scoring system. A total of 27 coding exons of TCOF1 and adjacent splice junctions were analysed by direct sequencing. In 36 patients with a clinically unequivocal...

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PMID: 15340364
DOI: 10.1038/sj.ejhg.5201260

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TCOF1

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