Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene
Abstract Background Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and is characterized by intellectual disability (ID), chi...
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| Language: | English |
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BMC
2023-10-01
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| Series: | BMC Neurology |
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| Online Access: | https://doi.org/10.1186/s12883-023-03417-x |
| _version_ | 1827633808081420288 |
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| author | Mengyue Niu Yanjing Li Shikun Zhan Bomin Sun Jun Liu Yiwen Wu |
| author_facet | Mengyue Niu Yanjing Li Shikun Zhan Bomin Sun Jun Liu Yiwen Wu |
| author_sort | Mengyue Niu |
| collection | DOAJ |
| description | Abstract Background Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and is characterized by intellectual disability (ID), childhood hypotonia, and distinctive facial features. Tourette-like syndrome in KS1 has rarely been reported. Case presentation Here we describe a 7-year-old girl presenting involuntary motor and vocal tics, intellectual disability, childhood hypotonia, and dysmorphic craniofacial appearances, as well as comorbidities including attention deficit-hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and self-injurious behavior (SIB). The patient’s CNV-seq testing revealed a de novo 320-kb deletion in the 9q34.3 region encompassing the EHMT1 gene. Conclusions This is the first case reporting Tourette-like syndrome secondary to KS1 with a de novo microdeletion in the EHMT1 gene. Our case suggests TS with ID and facial anomalies indicate a genetic cause and broadens the phenotypic and genotypic spectrum of both TS and KS1. |
| first_indexed | 2024-03-09T15:04:41Z |
| format | Article |
| id | doaj.art-2cf980c6c7bc47a0902d214d47fa9e81 |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-03-09T15:04:41Z |
| publishDate | 2023-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-2cf980c6c7bc47a0902d214d47fa9e812023-11-26T13:42:10ZengBMCBMC Neurology1471-23772023-10-012311410.1186/s12883-023-03417-xTourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 geneMengyue Niu0Yanjing Li1Shikun Zhan2Bomin Sun3Jun Liu4Yiwen Wu5Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Neurosurgery, Center for Functional Neurosurgery, Ruijin Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Neurosurgery, Center for Functional Neurosurgery, Ruijin Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of MedicineAbstract Background Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and is characterized by intellectual disability (ID), childhood hypotonia, and distinctive facial features. Tourette-like syndrome in KS1 has rarely been reported. Case presentation Here we describe a 7-year-old girl presenting involuntary motor and vocal tics, intellectual disability, childhood hypotonia, and dysmorphic craniofacial appearances, as well as comorbidities including attention deficit-hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and self-injurious behavior (SIB). The patient’s CNV-seq testing revealed a de novo 320-kb deletion in the 9q34.3 region encompassing the EHMT1 gene. Conclusions This is the first case reporting Tourette-like syndrome secondary to KS1 with a de novo microdeletion in the EHMT1 gene. Our case suggests TS with ID and facial anomalies indicate a genetic cause and broadens the phenotypic and genotypic spectrum of both TS and KS1.https://doi.org/10.1186/s12883-023-03417-xTourette syndromeKleefstra syndrome 1EHMT1 geneIntellectual disabilityTic disorders |
| spellingShingle | Mengyue Niu Yanjing Li Shikun Zhan Bomin Sun Jun Liu Yiwen Wu Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene BMC Neurology Tourette syndrome Kleefstra syndrome 1 EHMT1 gene Intellectual disability Tic disorders |
| title | Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene |
| title_full | Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene |
| title_fullStr | Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene |
| title_full_unstemmed | Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene |
| title_short | Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene |
| title_sort | tourette like syndrome secondary to kleefstra syndrome 1 with a de novo microdeletion in the ehmt1 gene |
| topic | Tourette syndrome Kleefstra syndrome 1 EHMT1 gene Intellectual disability Tic disorders |
| url | https://doi.org/10.1186/s12883-023-03417-x |
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