Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. [PDF]
BMC Med Genet, 2011 Abstract Background Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births.
Conte C +5 more
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Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report. [PDF]
Sci ProgTreacher Collins Syndrome (TCS) is a congenital disorder characterized by craniofacial malformations. In this case, a novel likely pathogenic nonsense variant, in the TCOF1 gene, associated with TCS, was reported. Genetic analysis was performed on an Ecuadorian participant (Subject A) and his
Cadena-Ullauri S +6 more
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The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome. [PDF]
Int J Mol Sci, 2021 The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response. The proper functioning of these organelles is ensured by specific proteins that maintain nucleolar structure and mediate key nucleolar ...
Grzanka M, Piekiełko-Witkowska A.
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Treacher Collins syndrome with a novel deletion in the TCOF1 gene
Erciyes Medical Journal, 2019 Treacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence is 1 in 50000 live births. Bilaterally symmetric anomalies of the structure are present within the first and second branchial arches.
Cavdartepe, Busra Eser +3 more
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Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients. [PDF]
J Clin Lab Anal, 2021 AbstractBackgroundTreacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse. Interventional surgery can improve hearing loss and facial deformity in TCS patients.MethodWe recruited seven TCS families.
Zhang C +15 more
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Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene [PDF]
Journal of the Formosan Medical Association, 2006 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.
Pen-Hua Su +3 more
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Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]
Mol Genet Genomic MedTargeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Nevondwe P +6 more
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Case Report: A novel heterozygous variant of the <i>TCOF1</i> gene in Treacher Collins syndrome. [PDF]
Front PediatrTreacher Collins syndrome (TCS) is a craniofacial malformation caused by the abnormal development of the first and second pharyngeal arches during embryogenesis. While pathogenic variants in POLR1B, POLR1C, and POLR1D are implicated, the TCOF1 gene represents the primary causative locus.
Zhang L, Wang F, Zhu Y, Zhang H, Liu Y.
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Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome. [PDF]
J Appl Genet, 2012 Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in the general population at a frequency of 1 in 50,000 live ...
Marszałek-Kruk BA +3 more
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A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome. [PDF]
Indian J OphthalmolPremkumar S +5 more
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