Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome [PDF]
Frontiers in PediatricsTreacher Collins syndrome (TCS) is a craniofacial malformation caused by the abnormal development of the first and second pharyngeal arches during embryogenesis.
Lijuan Zhang +4 more
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Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report [PDF]
Science ProgressTreacher 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.
Santiago Cadena-Ullauri +6 more
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Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients [PDF]
Journal of Clinical Laboratory Analysis, 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.
Xiaohua Jin +2 more
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Novel mutations of
BMC Medical Genetics, 2011 Background Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression.
Rinaldi Fabrizio +5 more
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Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects
Molecular Genetics & Genomic Medicine, 2023 Background Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood.
Fang Wang +3 more
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Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome [PDF]
Journal of Applied Genetics, 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 ...
Piotr Wójcicki +2 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.
europepmc +4 more sources
A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome [PDF]
Indian Journal of OphthalmologySubramanian Premkumar +5 more
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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.
Büşra Eser Çavdartepe +3 more
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Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene
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 ...
Pen-Hua Su +3 more
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