Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports
Abstract The TBL1XR1 gene (Transducin beta-like 1X-linked receptor 1) is responsible for encoding the TBL1XR1 protein, an important component of the NCoR and SMRT corepressor complexes. 48 missense variants of the TBL1XR1 gene have been reported, which are associated with various phenotypes of neuro...
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| Format: | Article |
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BMC
2025-05-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-025-02169-6 |
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| author | Linlin Wei Yonghui Yang Tiejia Jiang Chaolang Zhang Cuiying Chen Mingwei Huang Nannan Li Huachun Xiong Feng Gao |
| author_facet | Linlin Wei Yonghui Yang Tiejia Jiang Chaolang Zhang Cuiying Chen Mingwei Huang Nannan Li Huachun Xiong Feng Gao |
| author_sort | Linlin Wei |
| collection | DOAJ |
| description | Abstract The TBL1XR1 gene (Transducin beta-like 1X-linked receptor 1) is responsible for encoding the TBL1XR1 protein, an important component of the NCoR and SMRT corepressor complexes. 48 missense variants of the TBL1XR1 gene have been reported, which are associated with various phenotypes of neurodevelopmental disorders, including West syndrome, Pierpont syndrome, and others. However, given the important role of TBL1XR1 in neurological diseases, it is still necessary to further explore the variation of TBL1XR1. In this study, we present two patients with distinct variants and phenotypes. Patient 1 exhibits global developmental delay, intellectual disability, delayed language development, and seizures. While patient 2 displays mild facial dysmorphism, significant developmental delay, feeding difficulties, and increased muscle tone. Through trio whole-exome sequencing, two novel pathogenic variants in the TBL1XR1 gene were identified: A heterozygous NM_024665.6:c.940G > T (p.Val314Phe) variant in patient 1 and a heterozygous NM_024665.6:c.1387G > T (p.Asp463Tyr) in patient 2. Discovery of these two novel variant sites expands the mutation spectrum associated with the TBL1XR1 gene. |
| format | Article |
| id | doaj-art-e3da2e9e2b1d433791111f7f068f00c8 |
| institution | Kabale University |
| issn | 1755-8794 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj-art-e3da2e9e2b1d433791111f7f068f00c82025-08-20T04:02:41ZengBMCBMC Medical Genomics1755-87942025-05-011811710.1186/s12920-025-02169-6Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reportsLinlin Wei0Yonghui Yang1Tiejia Jiang2Chaolang Zhang3Cuiying Chen4Mingwei Huang5Nannan Li6Huachun Xiong7Feng Gao8Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child HealthThe Third Affiliated Hospital of Zhengzhou UniversityChildren’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child HealthChildren’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child HealthChildren’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child HealthAegicare (Shenzhen) Technology Co. LtdAegicare (Shenzhen) Technology Co. LtdThe Third Affiliated Hospital of Zhengzhou UniversityChildren’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child HealthAbstract The TBL1XR1 gene (Transducin beta-like 1X-linked receptor 1) is responsible for encoding the TBL1XR1 protein, an important component of the NCoR and SMRT corepressor complexes. 48 missense variants of the TBL1XR1 gene have been reported, which are associated with various phenotypes of neurodevelopmental disorders, including West syndrome, Pierpont syndrome, and others. However, given the important role of TBL1XR1 in neurological diseases, it is still necessary to further explore the variation of TBL1XR1. In this study, we present two patients with distinct variants and phenotypes. Patient 1 exhibits global developmental delay, intellectual disability, delayed language development, and seizures. While patient 2 displays mild facial dysmorphism, significant developmental delay, feeding difficulties, and increased muscle tone. Through trio whole-exome sequencing, two novel pathogenic variants in the TBL1XR1 gene were identified: A heterozygous NM_024665.6:c.940G > T (p.Val314Phe) variant in patient 1 and a heterozygous NM_024665.6:c.1387G > T (p.Asp463Tyr) in patient 2. Discovery of these two novel variant sites expands the mutation spectrum associated with the TBL1XR1 gene.https://doi.org/10.1186/s12920-025-02169-6TBL1XR1Trio-WESMRD41Case reportsPierpont syndrome |
| spellingShingle | Linlin Wei Yonghui Yang Tiejia Jiang Chaolang Zhang Cuiying Chen Mingwei Huang Nannan Li Huachun Xiong Feng Gao Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports BMC Medical Genomics TBL1XR1 Trio-WES MRD41 Case reports Pierpont syndrome |
| title | Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports |
| title_full | Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports |
| title_fullStr | Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports |
| title_full_unstemmed | Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports |
| title_short | Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports |
| title_sort | different mutations in tbl1xr1 lead to diverse phenotypes of neurodevelopmental disorder two case reports |
| topic | TBL1XR1 Trio-WES MRD41 Case reports Pierpont syndrome |
| url | https://doi.org/10.1186/s12920-025-02169-6 |
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