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http://purl.uniprot.org/citations/25790162http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/25790162http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C.

Methods

We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene.

Results

We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature.

Conclusion

Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.org/dc/terms/identifier"doi:10.1038/gim.2015.29"xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Vincent M."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Dollfus H."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Schaefer E."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Collet C."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Blanchet C."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Lyonnet S."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Isidor B."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Goizet C."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Lacombe D."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Coubes C."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"David A."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Verloes A."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Leheup B."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Odent S."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Philip N."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Attie-Bitach T."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Goldenberg A."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Layet V."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Mercier S."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Perez M.J."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Marlin S."xsd:string
http://purl.uniprot.org/citations/25790162http://purl.uniprot.org/core/author"Mignot C."xsd:string
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