ArticleJournal of clinical laboratory analysis2021
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
Article in Journal of clinical laboratory analysis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 11 citations in OpenAlex.
- Pediatric hearing loss in the universal newborn hearing screening era: etiologies, risk indicators, and clinical phenotypes.Frontiers in public health · 2026Review
- Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization.Orphanet journal of rare diseases · 2025Article
- Systematic Review of Current Audiological Treatment Options for Patients with Treacher Collins Syndrome (TCS) and Surgical and Audiological Experiences of an Otorhinolaryngologist with TCS.Journal of personalized medicine · 2024Review
- Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project.Human genetics · 2023Article
- [Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome.Human genome variation · 2021Article
- Review
- CYLD deficiency causes auditory neuropathy due to reduced neurite outgrowth.Journal of clinical laboratory analysis · 2021Article
- Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.Molecular genetics & genomic medicine · 2021Article
- Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.Journal of clinical laboratory analysis · 2021Article
- Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report.Science progressArticle
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundTreacher 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. Variant screening in probands was performed by targeted next-generation sequencing (NGS). The variants identified were confirmed by Sanger sequencing. The pathogenicity of all the mutations was evaluated using the guidelines of the American College of Medical Genetics and Genomics (ACMG) and InterVar software.
resultsThree frameshift variants, two nonsense variants, one missense variant, and one splicing variant of TCOF1 were identified in the seven TCS probands. Five variants including c.1393C > T, c.4111 + 5G>C, c.1142delC, c.2285_2286delCT, and c.1719delG had not been previously reported. Furthermore, we report the c.149A > G variant for the first time in a Chinese TCS patient. We provided prenatal diagnosis for family 4. Proband 7 chose interventional surgery.
conclusionWe identified five novel variants in TCOF1 in Chinese patients with TCS, which expands the mutation spectrum of TCOF1 in TCS. Bone conduction hearing rehabilitation can improve hearing for TCS patients and prenatal diagnosis can provide fertility guidance for TCS families.
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