Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1
BackgroundThe gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetic...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1346987/full |
| _version_ | 1797226462509531136 |
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| author | Lu Wang Lu Wang Haiquan Xu Jianbo Shu Jianbo Shu Dandan Yan Dandan Yan Dong Li Chunquan Cai Chunquan Cai |
| author_facet | Lu Wang Lu Wang Haiquan Xu Jianbo Shu Jianbo Shu Dandan Yan Dandan Yan Dong Li Chunquan Cai Chunquan Cai |
| author_sort | Lu Wang |
| collection | DOAJ |
| description | BackgroundThe gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetics of DEE45 may be helpful in complementing genotype-phenotype studies.Case presentationWe collected peripheral blood samples from the affected children and parents and extracted genomic DNA. Whole exome sequencing (WES) was utilized to identify the underlying disease-causing variant. WES showed that the prior carried a heterozygous variant c.686C > T p.(Ala229Val) in exon 7 of the GABRB1 (NM_000812.4), and no variant was detected in either parental sample. The child has DEE45.ConclusionThe variant c.686C > T of the GABRB1 is a possible cause of DEE45. Gene variant analysis of the relevant family lines using WES provides effective genetic counseling for developing and regressing such patients in the clinic. However, further studies are needed to verify the pathogenic mechanism. |
| first_indexed | 2024-04-24T14:25:18Z |
| format | Article |
| id | doaj.art-03e72a674361405b97b2bf638b077b55 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-24T14:25:18Z |
| publishDate | 2024-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-03e72a674361405b97b2bf638b077b552024-04-03T04:58:00ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-04-011210.3389/fped.2024.13469871346987Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1Lu Wang0Lu Wang1Haiquan Xu2Jianbo Shu3Jianbo Shu4Dandan Yan5Dandan Yan6Dong Li7Chunquan Cai8Chunquan Cai9Tianjin Pediatric Research Institute, Tianjin Children’s Hospital (Tianjin University Children’s Hospital), Tianjin, ChinaTianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, ChinaDepartment of Neurology, Tianjin Children’s Hospital (Tianjin University Children’s Hospital), Tianjin, ChinaTianjin Pediatric Research Institute, Tianjin Children’s Hospital (Tianjin University Children’s Hospital), Tianjin, ChinaTianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, ChinaTianjin Pediatric Research Institute, Tianjin Children’s Hospital (Tianjin University Children’s Hospital), Tianjin, ChinaTianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, ChinaDepartment of Neurology, Tianjin Children’s Hospital (Tianjin University Children’s Hospital), Tianjin, ChinaTianjin Pediatric Research Institute, Tianjin Children’s Hospital (Tianjin University Children’s Hospital), Tianjin, ChinaTianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, ChinaBackgroundThe gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetics of DEE45 may be helpful in complementing genotype-phenotype studies.Case presentationWe collected peripheral blood samples from the affected children and parents and extracted genomic DNA. Whole exome sequencing (WES) was utilized to identify the underlying disease-causing variant. WES showed that the prior carried a heterozygous variant c.686C > T p.(Ala229Val) in exon 7 of the GABRB1 (NM_000812.4), and no variant was detected in either parental sample. The child has DEE45.ConclusionThe variant c.686C > T of the GABRB1 is a possible cause of DEE45. Gene variant analysis of the relevant family lines using WES provides effective genetic counseling for developing and regressing such patients in the clinic. However, further studies are needed to verify the pathogenic mechanism.https://www.frontiersin.org/articles/10.3389/fped.2024.1346987/fullchildrende novo variantepilepsyGABRB1case report |
| spellingShingle | Lu Wang Lu Wang Haiquan Xu Jianbo Shu Jianbo Shu Dandan Yan Dandan Yan Dong Li Chunquan Cai Chunquan Cai Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1 Frontiers in Pediatrics children de novo variant epilepsy GABRB1 case report |
| title | Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1 |
| title_full | Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1 |
| title_fullStr | Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1 |
| title_full_unstemmed | Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1 |
| title_short | Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1 |
| title_sort | case report a developmental and epileptic encephalopathy 45 due to de novo variant of gabrb1 |
| topic | children de novo variant epilepsy GABRB1 case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1346987/full |
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