MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene
Background:MN1 C-terminal truncation (MCTT) syndrome is caused by variants in the C-terminal region of MN1, which were first described in 2020. The clinical features of MCTT syndrome includes severe neurodevelopmental and brain abnormalities. We reported on a patient who carried the MN1 variant in t...
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Frontiers Media S.A.
2021-12-01
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| Series: | Frontiers in Molecular Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnmol.2021.789778/full |
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| author | Qi Tian Qi Tian Qi Tian Li Shu Li Shu Pu Zhang Ting Zeng Yang Cao Hui Xi Ying Peng Yaqin Wang Xiao Mao Xiao Mao Hua Wang Hua Wang |
| author_facet | Qi Tian Qi Tian Qi Tian Li Shu Li Shu Pu Zhang Ting Zeng Yang Cao Hui Xi Ying Peng Yaqin Wang Xiao Mao Xiao Mao Hua Wang Hua Wang |
| author_sort | Qi Tian |
| collection | DOAJ |
| description | Background:MN1 C-terminal truncation (MCTT) syndrome is caused by variants in the C-terminal region of MN1, which were first described in 2020. The clinical features of MCTT syndrome includes severe neurodevelopmental and brain abnormalities. We reported on a patient who carried the MN1 variant in the C-terminal region with mild developmental delay and normal brain magnetic resonance image (MRI).Methods: Detailed clinical information was collected in the pedigree. Whole-exome sequencing (WES) accompanied with Sanger sequencing validation were performed. A functional study based on HEK239T cells was performed.Results: A de novo heterozygous c.3734delT: p.L1245fs variant was detected. HEK239T cells transinfected with the de novo variant showed decreased proliferation, enhanced apoptotic rate, and MN1 nuclear aggregation.Conclusion: Our study expended the clinical and genetic spectrum of MCTT which contributes to the genetic counseling of the MN1 gene. |
| first_indexed | 2024-12-13T21:18:11Z |
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| id | doaj.art-d879d8c2fbfc482197d024ab43195c77 |
| institution | Directory Open Access Journal |
| issn | 1662-5099 |
| language | English |
| last_indexed | 2024-12-13T21:18:11Z |
| publishDate | 2021-12-01 |
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| spelling | doaj.art-d879d8c2fbfc482197d024ab43195c772022-12-21T23:31:11ZengFrontiers Media S.A.Frontiers in Molecular Neuroscience1662-50992021-12-011410.3389/fnmol.2021.789778789778MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 GeneQi Tian0Qi Tian1Qi Tian2Li Shu3Li Shu4Pu Zhang5Ting Zeng6Yang Cao7Hui Xi8Ying Peng9Yaqin Wang10Xiao Mao11Xiao Mao12Hua Wang13Hua Wang14Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, ChinaNational Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, ChinaDepartment of Obstetrics and Gynecology, Maternal and Child Health Hospital of Hunan Province, Changsha, ChinaDepartment of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, ChinaNational Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, ChinaDepartment of Obstetrics and Gynecology, Maternal and Child Health Hospital of Hunan Province, Changsha, ChinaThe Ministry of Education and Science, Maternal and Child Health Hospital of Hunan Province, Changsha, ChinaDepartment of Radiology, Chenzhou First People’s Hospital, Chenzhou, ChinaDepartment of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, ChinaDepartment of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, ChinaHealth Management Center, The Third Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, ChinaNational Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, ChinaDepartment of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, ChinaNational Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, ChinaBackground:MN1 C-terminal truncation (MCTT) syndrome is caused by variants in the C-terminal region of MN1, which were first described in 2020. The clinical features of MCTT syndrome includes severe neurodevelopmental and brain abnormalities. We reported on a patient who carried the MN1 variant in the C-terminal region with mild developmental delay and normal brain magnetic resonance image (MRI).Methods: Detailed clinical information was collected in the pedigree. Whole-exome sequencing (WES) accompanied with Sanger sequencing validation were performed. A functional study based on HEK239T cells was performed.Results: A de novo heterozygous c.3734delT: p.L1245fs variant was detected. HEK239T cells transinfected with the de novo variant showed decreased proliferation, enhanced apoptotic rate, and MN1 nuclear aggregation.Conclusion: Our study expended the clinical and genetic spectrum of MCTT which contributes to the genetic counseling of the MN1 gene.https://www.frontiersin.org/articles/10.3389/fnmol.2021.789778/fullMN1MN1 C-terminal truncation (MCTT) syndromeneurodevelopmental outcomedevelopmental delaywhole-exome sequencing |
| spellingShingle | Qi Tian Qi Tian Qi Tian Li Shu Li Shu Pu Zhang Ting Zeng Yang Cao Hui Xi Ying Peng Yaqin Wang Xiao Mao Xiao Mao Hua Wang Hua Wang MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene Frontiers in Molecular Neuroscience MN1 MN1 C-terminal truncation (MCTT) syndrome neurodevelopmental outcome developmental delay whole-exome sequencing |
| title | MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene |
| title_full | MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene |
| title_fullStr | MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene |
| title_full_unstemmed | MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene |
| title_short | MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene |
| title_sort | mn1 neurodevelopmental disease atypical phenotype due to a novel frameshift variant in the mn1 gene |
| topic | MN1 MN1 C-terminal truncation (MCTT) syndrome neurodevelopmental outcome developmental delay whole-exome sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fnmol.2021.789778/full |
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