LETTER TO JMG

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

A Splendore¹, E W Jabs² and M R Passos-Bueno¹

¹ Centro de Estudos do Genoma Humano, Departamento de Genética, Instituto de Biociências Universidade de São Paulo, São Paulo, SP, Brazil
² Department of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA

Correspondence to:
Correspondence to:
Dr M R Passos-Bueno, Departamento de Genética, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, CEP 05508-900, Cidade Universitária, São Paulo, SP, Brazil;
passos@ib.usp.br

Keywords: TCOF1; Treacher Collins syndrome; treacle protein

The first 150 words of the full text of this article appear below.

Treacher Collins syndrome (TCS, MIM *154500) is an autosomal dominant craniofacial disorder characterised by malar hypoplasia, micrognathia, downward slanting palpebral fissures, lower eyelid coloboma, malformed auricles, conductive deafness, and cleft palate. The estimated incidence is 1/50 000, with 60% of the cases resulting from sporadic mutations.¹ There is marked phenotypic variability among patients, ranging from perinatal death because of a compromised airway to those that go undetected by medical examination. The gene underlying this condition, TCOF1, was mapped in 1996² and since then mutation detection studies have concluded that: (1) the majority of pathogenic mutations are small deletions and insertions causing frameshifts that are predicted to result in a truncated protein; (2) mutations (both polymorphic and pathogenic) can be found throughout the 25 coding exons of the gene; (3) most mutations are family specific with the exception of a commonly occurring 5 bp deletion in exon 24 (found in . . . [Full text of this article]

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• Gonzales, B., Henning, D., So, R. B., Dixon, J., Dixon, M. J., Valdez, B. C. (2005). The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Genet 14: 2035-2043 [Abstract] [Full Text]  
• Valdez, B. C., Henning, D., So, R. B., Dixon, J., Dixon, M. J. (2004). The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc. Natl. Acad. Sci. USA 101: 10709-10714 [Abstract] [Full Text]