Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate. TCS is caused by mutations in the TC...

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Bibliographic Details
Published in:Journal of the Formosan Medical Association 2006, Vol.105 (6), p.518-521
Main Authors: Su, Pen-Hua, Chen, Jia-Yu, Chen, Suh-Jen, Yu, Ju-Shan
Format: Article
Language:English
Subjects:
mutation
TCOF1 gene
Treacher Collins syndrome
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Summary:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate. TCS is caused by mutations in the TCOF1 gene, which encodes the nuclear phosphoprotein treacle. Here, we describe a 1-day-old male infant with classical TCS presentation. A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. This is the first report of TCOF1 gene mutation in the Taiwanese population.
ISSN:0929-6646
DOI:10.1016/S0929-6646(09)60194-7