Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders
Abstract Genes associated with specific neurocognitive phenotypes in Williams–Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Williams–Beuren syndrome; these deletions included seven smaller deletions and two l...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-04-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-022-01227-7 |
| _version_ | 1819061465071484928 |
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| author | Jianrong Zhou Ying Zheng Guiying Liang Xiaoli Xu Jian Liu Shaoxian Chen Tongkai Ge Pengju Wen Yong Zhang Xiaoqing Liu Jian Zhuang Yueheng Wu Jimei Chen |
| author_facet | Jianrong Zhou Ying Zheng Guiying Liang Xiaoli Xu Jian Liu Shaoxian Chen Tongkai Ge Pengju Wen Yong Zhang Xiaoqing Liu Jian Zhuang Yueheng Wu Jimei Chen |
| author_sort | Jianrong Zhou |
| collection | DOAJ |
| description | Abstract Genes associated with specific neurocognitive phenotypes in Williams–Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Williams–Beuren syndrome; these deletions included seven smaller deletions and two larger deletions. One patient had normal neurodevelopment with a deletion of genes on the distal side of the Williams–Beuren syndrome chromosomal region, including GTF2I and GTF2IRD1. However, another patient retained these genes but showed neurodevelopmental abnormalities. By comparing the genotypes and phenotypes of patients with typical and atypical deletions and previous reports in the literature, we hypothesize that the BAZ1B, FZD9, and STX1A genes may play an important role in the neurodevelopment of patients with WBS. |
| first_indexed | 2024-12-21T14:43:19Z |
| format | Article |
| id | doaj.art-76a2c0e2ffda4b969f78acd6a502a732 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-12-21T14:43:19Z |
| publishDate | 2022-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-76a2c0e2ffda4b969f78acd6a502a7322022-12-21T19:00:07ZengBMCBMC Medical Genomics1755-87942022-04-0115111010.1186/s12920-022-01227-7Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disordersJianrong Zhou0Ying Zheng1Guiying Liang2Xiaoli Xu3Jian Liu4Shaoxian Chen5Tongkai Ge6Pengju Wen7Yong Zhang8Xiaoqing Liu9Jian Zhuang10Yueheng Wu11Jimei Chen12Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesDepartment of Nutrition, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesDepartment of Physical Therapy and Rehabilitation, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesDepartment of Endocrinology, General Hospital of Central Theater CommandDepartment of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesGuangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesDepartment of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesDepartment of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesDepartment of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesDivision of Epidemiology, Guangdong Provincial People’s Hospital and Cardiovascular InstituteDepartment of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesDepartment of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesDepartment of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical SciencesAbstract Genes associated with specific neurocognitive phenotypes in Williams–Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Williams–Beuren syndrome; these deletions included seven smaller deletions and two larger deletions. One patient had normal neurodevelopment with a deletion of genes on the distal side of the Williams–Beuren syndrome chromosomal region, including GTF2I and GTF2IRD1. However, another patient retained these genes but showed neurodevelopmental abnormalities. By comparing the genotypes and phenotypes of patients with typical and atypical deletions and previous reports in the literature, we hypothesize that the BAZ1B, FZD9, and STX1A genes may play an important role in the neurodevelopment of patients with WBS.https://doi.org/10.1186/s12920-022-01227-7Atypical deletionWilliams–Beuren syndromeGenotype–phenotype correlationIntellectual disabilityGrowth restriction |
| spellingShingle | Jianrong Zhou Ying Zheng Guiying Liang Xiaoli Xu Jian Liu Shaoxian Chen Tongkai Ge Pengju Wen Yong Zhang Xiaoqing Liu Jian Zhuang Yueheng Wu Jimei Chen Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders BMC Medical Genomics Atypical deletion Williams–Beuren syndrome Genotype–phenotype correlation Intellectual disability Growth restriction |
| title | Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders |
| title_full | Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders |
| title_fullStr | Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders |
| title_full_unstemmed | Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders |
| title_short | Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders |
| title_sort | atypical deletion of williams beuren syndrome reveals the mechanism of neurodevelopmental disorders |
| topic | Atypical deletion Williams–Beuren syndrome Genotype–phenotype correlation Intellectual disability Growth restriction |
| url | https://doi.org/10.1186/s12920-022-01227-7 |
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