ArticleMolecular genetics & genomic medicine2020
Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy.Orphanet journal of rare diseases · 2026Pooled it
- Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.International journal of molecular sciences · 2026Article
- Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.BMC pregnancy and childbirth · 2021Article
- Review
- Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.Molecular genetics & genomic medicine · 2021Article
- Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTreacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with TCS only depending on the ultrasound screening. Genetic tests can contribute to the accurate diagnosis for those prenatal cases.
methodsTargeted exome sequencing was performed in a fetus of a Chinese family, who presenting an abnormal facial appearance by prenatal 2D and 3D ultrasound screening, including micrognathia, nasal bridge pit, and abnormal auricle. The result was validated with multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR (qPCR).
resultsA novel 2-6 exons deletion of TCOF1 gene was identified and confirmed by the MLPA and qPCR in the fetus, which was inherited from the affected father with similar facial anomalies.
conclusionThe heterozygous deletion of 2-6 exons in TCOF1 results in the TCS of this Chinese family. Our 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.
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