ArticleOrphanet journal of rare diseases2019
TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.Molecular genetics & genomic medicine · 2026Article
- Pregnancy with treacher collins syndrome in mechanical heart valve: a case report and discussion treacher collins syndrome and MHV.BMC pregnancy and childbirth · 2026Article
- Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.International journal of molecular sciences · 2024Article
- Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.Molecular genetics & genomic medicine · 2024Article
- A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.Journal of community genetics · 2024Article
- 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
- [Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Article
- Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome.Human genome variation · 2021Article
- Review
- Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.Molecular genetics & genomic medicine · 2021Article
- [Obstructive sleep apnea in microtia children with maxillofacial dysostosis].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Review
- Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.Molecular genetics & genomic medicine · 2021Article
- Identification of Novel Compound HeterozygousNeural plasticity · 2021Article
- Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.Journal of clinical laboratory analysis · 2021Article
- Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.Molecular genetics & genomic medicine · 2020Article
- Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.Frontiers in genetics · 2020Article
- Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report.Science progressArticle
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7 authors at 2 institutions in 1 country.
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Abstract
backgroundTreacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births. Although TCOF1, POLR1D, and POLR1C, have been identified as the pathogenic genes for about 90% TCS patients, the pathogenic variants of about 8-11% cases remain unknown. The object of this study is to describe the molecular basis of 14 clinically diagnosed TCS patients from four families using Whole-exome sequencing (WES) followed by Sanger sequencing confirmation, and to analyze the effect of bone conduction hearing rehabilitation in TCS patients with bilateral conductive hearing loss.
resultsFour previously unreported heterozygous pathogenic variants (c.3047-2A > G, c.2478 + 5G > A, c.489delC, c.648delC) were identified in the TCOF1 gene, one in each of the four families. Sanger sequencing in family members confirmed co-segregation of the identified TCOF1 variants with the phenotype. The mean pure-tone threshold improvements measured 3 months after hearing intervention were 28.8 dB for soft-band BAHA, 36.6 ± 2.0 dB for Ponto implantation, and 27.5 dB SPL for Bonebridge implantation. The mean speech discrimination improvements measured 3 months after hearing intervention in a sound field with a presentation level of 65 dB SPL were 44%, 51.25 ± 5.06, and 58%, respectively. All six patients undergoing hearing rehabilitation in this study got a satisfied hearing improvement.
conclusionsWES combined with Sanger sequencing enables the molecular diagnosis of TCS and may detect other unknown causative genes. Bone conduction hearing rehabilitation may be an optimal option for TCS patients with bilateral conductive hearing loss.
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