Identification of mutations in TCOF1: Use of molecular analysis in the pre‐ and postnatal diagnosis of Treacher Collins syndrome

@article{Dixon2004IdentificationOM,
  title={Identification of mutations in TCOF1: Use of molecular analysis in the pre‐ and postnatal diagnosis of Treacher Collins syndrome},
  author={Jill Dixon and Ian H Ellis and Armand Bottani and Karen I Temple and Michael James Dixon},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={127A}
}
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter‐ and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together… Expand
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome
TLDR
Almost all the TCOF1 pathogenic mutations fall in the coding region and lead to an aberrant protein, resulting in a truncated protein. Expand
Novel mutations of TCOF 1 gene in European patients with Treacher Collins syndrome
Background Treacher Collins syndrome [TCS] is one of the most severe autosomal dominant congenital disorders of craniofacial development, showing a variable phenotypic expression. TCS is extremelyExpand
Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome
TLDR
The findings expand the TCOF1 mutation spectrum indicating that dosage analysis should be performed together with sequence analysis, a strategy that is predicted to have a sensitivity of 71% for patients in whom TCS is strongly suspected. Expand
Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome
TLDR
The findings not only enlarge the spectrum of mutations in TCOF1 gene, but also highlight the values of combination of ultrasound and genetics tests in diagnosis of craniofacial malformation‐related diseases during perinatal period. Expand
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
TLDR
A cohort of 112 patients with a tentative clinical diagnosis of TCS was investigated by multiplex ligation-dependent probe amplification (MLPA) to search for larger deletions not detectable with other methods used and identified a 3.367 kb deletion, which is the first described single exon deletion within TCOF1. Expand
Novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome
TLDR
A novel, heterozygous deletion c.1978delC was detected in one patient with typical facial symptoms of Treacher Collins syndrome and will facilitate precise diagnosis of the patient and will extend knowledge on the pathogenesis of TCS. Expand
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
TLDR
Even though TCOF1 and POLR1D were associated with extreme clinical variability, a clinical and extensive molecular study in a series of 146 patients with Treacher Collins/Franceschetti syndrome found no phenotype–genotype correlation. Expand
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature
TLDR
A new family with two sisters affected by mild TCS carrying compound POLR1C heterozygous mutations is reported, the literature on mild forms of TCS, autosomal recessive inheritance in this syndrome and POLR 1C mutations are reviewed. Expand
Clinical and imaging correlations of Treacher Collins syndrome: report of two cases.
TLDR
The purpose of this paper is to present the results of a clinical and computed tomography investigation of two patients with Treacher Collins syndrome, allowing the morphological analysis of these bones in individuals with complex deformities. Expand
Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome
TLDR
A new heterozygotic insertion, c.484_668ins185bp, was described in two monozygotic twin sisters suffering from TCS, which was absent in their father, brother, and uncle, indicating a de novo origin. Expand
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The identification of different mutations in five unrelated families, all of which would result in premature termination of the predicted protein, indicates that the Treacher Collins syndrome gene has been positionally cloned. Expand
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TLDR
Thirteen novel polymorphic alterations were characterized, confirming previous reports that TCOF1 has an unusually high rate of single‐nucleotide polymorphisms within its coding region and suggesting a possible different mechanism leading to TCS or genetic heterogeneity for this condition. Expand
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