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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2006-01-01
|
| Series: | Journal of the Formosan Medical Association |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664609601947 |
| _version_ | 1818961648515284992 |
|---|---|
| author | Pen-Hua Su Jia-Yu Chen Suh-Jen Chen Ju-Shan Yu |
| author_facet | Pen-Hua Su Jia-Yu Chen Suh-Jen Chen Ju-Shan Yu |
| author_sort | Pen-Hua Su |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T12:16:46Z |
| format | Article |
| id | doaj.art-99debaf5eb1f4e63b14fc68b64fedbfd |
| institution | Directory Open Access Journal |
| issn | 0929-6646 |
| language | English |
| last_indexed | 2024-12-20T12:16:46Z |
| publishDate | 2006-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of the Formosan Medical Association |
| spelling | doaj.art-99debaf5eb1f4e63b14fc68b64fedbfd2022-12-21T19:41:06ZengElsevierJournal of the Formosan Medical Association0929-66462006-01-01105651852110.1016/S0929-6646(09)60194-7Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 GenePen-Hua Su0Jia-Yu Chen1Suh-Jen Chen2Ju-Shan Yu3Institute of Medicine, Chung Shan Medical University, Taichung, TaiwanDepartment of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDepartment of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanInstitute of Medicine, Chung Shan Medical University, Taichung, TaiwanTreacher 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.http://www.sciencedirect.com/science/article/pii/S0929664609601947mutationTCOF1 geneTreacher Collins syndrome |
| spellingShingle | Pen-Hua Su Jia-Yu Chen Suh-Jen Chen Ju-Shan Yu Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene Journal of the Formosan Medical Association mutation TCOF1 gene Treacher Collins syndrome |
| title | Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene |
| title_full | Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene |
| title_fullStr | Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene |
| title_full_unstemmed | Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene |
| title_short | Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene |
| title_sort | treacher collins syndrome with a de novo 5 bp deletion in the tcof1 gene |
| topic | mutation TCOF1 gene Treacher Collins syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S0929664609601947 |
| work_keys_str_mv | AT penhuasu treachercollinssyndromewithadenovo5bpdeletioninthetcof1gene AT jiayuchen treachercollinssyndromewithadenovo5bpdeletioninthetcof1gene AT suhjenchen treachercollinssyndromewithadenovo5bpdeletioninthetcof1gene AT jushanyu treachercollinssyndromewithadenovo5bpdeletioninthetcof1gene |