ArticleEuropean journal of human genetics : EJHG2014
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 27 citations in OpenAlex.
- Structural basis for the transport mechanism and cholesterol modulation of the human proline transporter.Nature communications · 2026Article
- Multiple types of navigational information are independently encoded in the population activities of the dentate gyrus neurons.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Role of CaFrontiers in molecular neuroscience · 2022Review
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- The Role ofInternational journal of molecular sciences · 2021Review
- Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.Molecular genetics & genomic medicine · 2020Article
- [Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2019Review
- Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.Experimental and therapeutic medicine · 2018Article
- Signals from the brain and olfactory epithelium control shaping of the mammalian nasal capsule cartilage.eLife · 2018Article
- Inactivation of the Mouse L-Proline Transporter PROT Alters Glutamatergic Synapse Biochemistry and Perturbs Behaviors Required to Respond to Environmental Changes.Frontiers in molecular neuroscience · 2018Article
- De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.American journal of human genetics · 2017Article
- Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.Pharmacological research · 2014Review
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13 authors at 5 institutions in 1 country.
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Abstract
Mandibulofacial dysostosis is part of a clinically and genetically heterogeneous group of disorders of craniofacial development, which lead to malar and mandibular hypoplasia. Treacher Collins syndrome is the major cause of mandibulofacial dysostosis and is due to mutations in the TCOF1 gene. Usually patients with Treacher Collins syndrome do not present with intellectual disability. Recently, the EFTUD2 gene was identified in patients with mandibulofacial dysostosis associated with microcephaly, intellectual disability and esophageal atresia. We report on two patients presenting with mandibulofacial dysostosis characteristic of Treacher Collins syndrome, but associated with unexpected intellectual disability, due to a large deletion encompassing several genes including the TCOF1 gene. We discuss the involvement of the other deleted genes such as CAMK2A or SLC6A7 in the cognitive development delay of the patients reported, and we propose the systematic investigation for 5q32 deletion when intellectual disability is associated with Treacher Collins syndrome.
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