Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review
A simultaneous analysis of nucleotide changes and copy number variations (CNVs) based on exome sequencing data was demonstrated as a potential new first-tier diagnosis strategy for rare neuropsychiatric disorders. In this report, using depth-of-coverage analysis from exome sequencing data, we descri...
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MDPI AG
2021-06-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/7/1001 |
| _version_ | 1797411363199385600 |
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| author | Ji Yoon Han Joonhong Park |
| author_facet | Ji Yoon Han Joonhong Park |
| author_sort | Ji Yoon Han |
| collection | DOAJ |
| description | A simultaneous analysis of nucleotide changes and copy number variations (CNVs) based on exome sequencing data was demonstrated as a potential new first-tier diagnosis strategy for rare neuropsychiatric disorders. In this report, using depth-of-coverage analysis from exome sequencing data, we described variable phenotypes of epilepsy, intellectual disability (ID), and schizophrenia caused by 12p13.33–p13.32 terminal microdeletion in a Korean family. We hypothesized that <i>CACNA1C</i> and <i>KDM5A</i> genes of the six candidate genes located in this region were the best candidates for explaining epilepsy, ID, and schizophrenia and may be responsible for clinical features reported in cases with monosomy of the 12p13.33 subtelomeric region. On the background of microdeletion syndrome, which was described in clinical cases with mild, moderate, and severe neurodevelopmental manifestations as well as impairments, the clinician may determine whether the patient will end up with a more severe or milder end-phenotype, which in turn determines disease prognosis. In our case, the 12p13.33–p13.32 terminal microdeletion may explain the variable expressivity in the same family. However, further comprehensive studies with larger cohorts focusing on careful phenotyping across the lifespan are required to clearly elucidate the possible contribution of genetic modifiers and the environmental influence on the expressivity of 12p13.33 microdeletion and associated characteristics. |
| first_indexed | 2024-03-09T04:44:02Z |
| format | Article |
| id | doaj.art-784122e15c3c477a8c6d229db896a6ef |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T04:44:02Z |
| publishDate | 2021-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-784122e15c3c477a8c6d229db896a6ef2023-12-03T13:17:19ZengMDPI AGGenes2073-44252021-06-01127100110.3390/genes12071001Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature ReviewJi Yoon Han0Joonhong Park1Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 06591, KoreaDepartment of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, KoreaA simultaneous analysis of nucleotide changes and copy number variations (CNVs) based on exome sequencing data was demonstrated as a potential new first-tier diagnosis strategy for rare neuropsychiatric disorders. In this report, using depth-of-coverage analysis from exome sequencing data, we described variable phenotypes of epilepsy, intellectual disability (ID), and schizophrenia caused by 12p13.33–p13.32 terminal microdeletion in a Korean family. We hypothesized that <i>CACNA1C</i> and <i>KDM5A</i> genes of the six candidate genes located in this region were the best candidates for explaining epilepsy, ID, and schizophrenia and may be responsible for clinical features reported in cases with monosomy of the 12p13.33 subtelomeric region. On the background of microdeletion syndrome, which was described in clinical cases with mild, moderate, and severe neurodevelopmental manifestations as well as impairments, the clinician may determine whether the patient will end up with a more severe or milder end-phenotype, which in turn determines disease prognosis. In our case, the 12p13.33–p13.32 terminal microdeletion may explain the variable expressivity in the same family. However, further comprehensive studies with larger cohorts focusing on careful phenotyping across the lifespan are required to clearly elucidate the possible contribution of genetic modifiers and the environmental influence on the expressivity of 12p13.33 microdeletion and associated characteristics.https://www.mdpi.com/2073-4425/12/7/1001variable phenotypes12p13.33 microdeletionepilepsyintellectual disabilityschizophreniaexome sequencing |
| spellingShingle | Ji Yoon Han Joonhong Park Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review Genes variable phenotypes 12p13.33 microdeletion epilepsy intellectual disability schizophrenia exome sequencing |
| title | Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review |
| title_full | Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review |
| title_fullStr | Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review |
| title_full_unstemmed | Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review |
| title_short | Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review |
| title_sort | variable phenotypes of epilepsy intellectual disability and schizophrenia caused by 12p13 33 p13 32 terminal microdeletion in a korean family a case report and literature review |
| topic | variable phenotypes 12p13.33 microdeletion epilepsy intellectual disability schizophrenia exome sequencing |
| url | https://www.mdpi.com/2073-4425/12/7/1001 |
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