DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature
Introduction: Subcortical band heterotopia (SBH) is a rare brain developmental malformation caused by deficient neuronal migration during embryogenesis. Published literature on pediatric SBH cases caused by DCX mutations is limited. Methods: The detailed clinical and genetic features of two pediatri...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-11-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844023095312 |
| _version_ | 1797429672437350400 |
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| author | Chunlai Gao Ning Liu Jian Ma Jianshe Zhao Bing Zhao Fengling Song Rui Dong Zilong Li Yuqiang Lv Yi Liu Zhongtao Gai |
| author_facet | Chunlai Gao Ning Liu Jian Ma Jianshe Zhao Bing Zhao Fengling Song Rui Dong Zilong Li Yuqiang Lv Yi Liu Zhongtao Gai |
| author_sort | Chunlai Gao |
| collection | DOAJ |
| description | Introduction: Subcortical band heterotopia (SBH) is a rare brain developmental malformation caused by deficient neuronal migration during embryogenesis. Published literature on pediatric SBH cases caused by DCX mutations is limited. Methods: The detailed clinical and genetic features of two pediatric SBH with DCX mutations were analyzed. The available literature on DCX mutations was reviewed. Results: Both patients were girls with varying degrees of developmental delay. Patient 1 was short in stature with peculiar facial features. Patient 2 had an early seizure onset and developed drug-resistant epilepsy. Whole-exome sequencing (WES) revealed two de novo heterozygous variants of DCX (NM_178153.3), including a novel missense variant of c.568A > G (p.K190E) in P1 and a reported nonsense variant of c.814C > T (p.R272*) in P2. We reviewed all the available literature regarding DCX mutations. A total of 153 different mutations have been reported, with the majority of 99 (64.7 %) being missense mutations. Conclusion: Our study expanded the mutational spectrum of DCX, which has important implications for the study of genotype-phenotype correlations. Furthermore, it provided insights to better understand SBH and genetic counseling. |
| first_indexed | 2024-03-09T09:16:32Z |
| format | Article |
| id | doaj.art-17275a1731a748c9a4bff6377c096c75 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-03-09T09:16:32Z |
| publishDate | 2023-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-17275a1731a748c9a4bff6377c096c752023-12-02T07:05:45ZengElsevierHeliyon2405-84402023-11-01911e22323DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literatureChunlai Gao0Ning Liu1Jian Ma2Jianshe Zhao3Bing Zhao4Fengling Song5Rui Dong6Zilong Li7Yuqiang Lv8Yi Liu9Zhongtao Gai10Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, ChinaChildren's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, ChinaChildren's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, ChinaChildren's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, ChinaChildren's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, ChinaChildren's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, ChinaChildren's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, ChinaChildren's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, ChinaChildren's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, ChinaChildren's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China; Corresponding author. Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Jinan Children's Hospital, Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China; Corresponding author. Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.Introduction: Subcortical band heterotopia (SBH) is a rare brain developmental malformation caused by deficient neuronal migration during embryogenesis. Published literature on pediatric SBH cases caused by DCX mutations is limited. Methods: The detailed clinical and genetic features of two pediatric SBH with DCX mutations were analyzed. The available literature on DCX mutations was reviewed. Results: Both patients were girls with varying degrees of developmental delay. Patient 1 was short in stature with peculiar facial features. Patient 2 had an early seizure onset and developed drug-resistant epilepsy. Whole-exome sequencing (WES) revealed two de novo heterozygous variants of DCX (NM_178153.3), including a novel missense variant of c.568A > G (p.K190E) in P1 and a reported nonsense variant of c.814C > T (p.R272*) in P2. We reviewed all the available literature regarding DCX mutations. A total of 153 different mutations have been reported, with the majority of 99 (64.7 %) being missense mutations. Conclusion: Our study expanded the mutational spectrum of DCX, which has important implications for the study of genotype-phenotype correlations. Furthermore, it provided insights to better understand SBH and genetic counseling.http://www.sciencedirect.com/science/article/pii/S2405844023095312LissencephalySubcortical band heterotopiaDCX geneMutationWhole-exome sequencing |
| spellingShingle | Chunlai Gao Ning Liu Jian Ma Jianshe Zhao Bing Zhao Fengling Song Rui Dong Zilong Li Yuqiang Lv Yi Liu Zhongtao Gai DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature Heliyon Lissencephaly Subcortical band heterotopia DCX gene Mutation Whole-exome sequencing |
| title | DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature |
| title_full | DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature |
| title_fullStr | DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature |
| title_full_unstemmed | DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature |
| title_short | DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature |
| title_sort | dcx variants in two unrelated chinese families with subcortical band heterotopia two case reports and review of literature |
| topic | Lissencephaly Subcortical band heterotopia DCX gene Mutation Whole-exome sequencing |
| url | http://www.sciencedirect.com/science/article/pii/S2405844023095312 |
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