Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome
Abstract Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T (p.Gln859*) and NM_001135243.2:c.4111G>T (p...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-09-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00168-4 |
| _version_ | 1818738552175853568 |
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| author | Bożena Anna Marszałek-Kruk Piotr Wójcicki |
| author_facet | Bożena Anna Marszałek-Kruk Piotr Wójcicki |
| author_sort | Bożena Anna Marszałek-Kruk |
| collection | DOAJ |
| description | Abstract Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T (p.Gln859*) and NM_001135243.2:c.4111G>T (p.Glu1371*). These mutations cause shortening of a protein called Treacle in patients with features typical of TCS. Continuous identification of new mutations is important to expand the mutation base, which is helpful in the diagnosis of both patients and their families |
| first_indexed | 2024-12-18T01:10:45Z |
| format | Article |
| id | doaj.art-cd7cc5d218344ea2987d0e62f63989c1 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-12-18T01:10:45Z |
| publishDate | 2021-09-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-cd7cc5d218344ea2987d0e62f63989c12022-12-21T21:26:07ZengNature Publishing GroupHuman Genome Variation2054-345X2021-09-01811410.1038/s41439-021-00168-4Identification of three novel TCOF1 mutations in patients with Treacher Collins SyndromeBożena Anna Marszałek-Kruk0Piotr Wójcicki1Department of Genetics, Wrocław University of Environmental and Life SciencesWrocław Medical UniversityAbstract Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T (p.Gln859*) and NM_001135243.2:c.4111G>T (p.Glu1371*). These mutations cause shortening of a protein called Treacle in patients with features typical of TCS. Continuous identification of new mutations is important to expand the mutation base, which is helpful in the diagnosis of both patients and their familieshttps://doi.org/10.1038/s41439-021-00168-4 |
| spellingShingle | Bożena Anna Marszałek-Kruk Piotr Wójcicki Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome Human Genome Variation |
| title | Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome |
| title_full | Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome |
| title_fullStr | Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome |
| title_full_unstemmed | Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome |
| title_short | Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome |
| title_sort | identification of three novel tcof1 mutations in patients with treacher collins syndrome |
| url | https://doi.org/10.1038/s41439-021-00168-4 |
| work_keys_str_mv | AT bozenaannamarszałekkruk identificationofthreenoveltcof1mutationsinpatientswithtreachercollinssyndrome AT piotrwojcicki identificationofthreenoveltcof1mutationsinpatientswithtreachercollinssyndrome |