“Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation
Abstract Background Contiguous gene gain syndrome including entire ZEB2 may be a novel syndrome. In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of the syndrome. Case presentation We report a novel case with the syndrome with...
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| Format: | Article |
| Language: | English |
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BMC
2023-09-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-023-04314-5 |
| _version_ | 1797556404215611392 |
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| author | Wei-Liang Liu Fang Li Wei Chen Lu Liu Hai-jian Cheng Zhi-Xu He Rong Ai |
| author_facet | Wei-Liang Liu Fang Li Wei Chen Lu Liu Hai-jian Cheng Zhi-Xu He Rong Ai |
| author_sort | Wei-Liang Liu |
| collection | DOAJ |
| description | Abstract Background Contiguous gene gain syndrome including entire ZEB2 may be a novel syndrome. In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of the syndrome. Case presentation We report a novel case with the syndrome with a novel de novo 22.16 Mb duplication at 2q21.2-q24.1. The syndrome is characterized by multiple anomalies including the same typical craniofacial phenotype that is entirely different from Mowat–Wilson syndrome (MWS), and other quite similar features of MWS consisting of development delay, congenital heart disease, abdominal abnormalities, urogenital abnormalities, behavioral problems and so on, in which the distinctive craniofacial features can be more easily recognized. Conclusions Contiguous gene gain syndrome including entire ZEB2 characterized with similar multiple congenital anomalies of MWS and the distinctive craniofacial features is mainly caused by large 2q22 repeats including ZEB2 leading to dominant singe ZEB2 gene gain mutation, which is recommended to be named “Liu-Liang-Chung” syndrome. We diagnose this novel syndrome to distinguish it from MWS. Some variable additional features in the syndrome including remarkable growth and development retardation and protruding ears were recognized for the first time. |
| first_indexed | 2024-03-10T17:02:19Z |
| format | Article |
| id | doaj.art-e1c1d8e2e28444cfb73740571460d64d |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-03-10T17:02:19Z |
| publishDate | 2023-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-e1c1d8e2e28444cfb73740571460d64d2023-11-20T10:57:07ZengBMCBMC Pediatrics1471-24312023-09-012311610.1186/s12887-023-04314-5“Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutationWei-Liang Liu0Fang Li1Wei Chen2Lu Liu3Hai-jian Cheng4Zhi-Xu He5Rong Ai6Department of Pediatrics, Affiliated Hospital of Guizhou Medical UniversityDepartment of Ophthalmology, Affiliated Hospital of Guizhou Medical UniversityDepartment of Ophthalmology, Affiliated Hospital of Guizhou Medical UniversityDepartment of Ophthalmology, Affiliated Hospital of Guizhou Medical UniversityBeijing Kangso Medical Laboratory Co., LtdDepartment of Pediatrics, Affiliated Hospital of Guizhou Medical UniversityDepartment of Pediatrics, Affiliated Hospital of Guizhou Medical UniversityAbstract Background Contiguous gene gain syndrome including entire ZEB2 may be a novel syndrome. In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of the syndrome. Case presentation We report a novel case with the syndrome with a novel de novo 22.16 Mb duplication at 2q21.2-q24.1. The syndrome is characterized by multiple anomalies including the same typical craniofacial phenotype that is entirely different from Mowat–Wilson syndrome (MWS), and other quite similar features of MWS consisting of development delay, congenital heart disease, abdominal abnormalities, urogenital abnormalities, behavioral problems and so on, in which the distinctive craniofacial features can be more easily recognized. Conclusions Contiguous gene gain syndrome including entire ZEB2 characterized with similar multiple congenital anomalies of MWS and the distinctive craniofacial features is mainly caused by large 2q22 repeats including ZEB2 leading to dominant singe ZEB2 gene gain mutation, which is recommended to be named “Liu-Liang-Chung” syndrome. We diagnose this novel syndrome to distinguish it from MWS. Some variable additional features in the syndrome including remarkable growth and development retardation and protruding ears were recognized for the first time.https://doi.org/10.1186/s12887-023-04314-5Liu-Liang-Chung syndromeZEB2Increase of gene dosage2q22Distinctive craniofacial features |
| spellingShingle | Wei-Liang Liu Fang Li Wei Chen Lu Liu Hai-jian Cheng Zhi-Xu He Rong Ai “Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation BMC Pediatrics Liu-Liang-Chung syndrome ZEB2 Increase of gene dosage 2q22 Distinctive craniofacial features |
| title | “Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation |
| title_full | “Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation |
| title_fullStr | “Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation |
| title_full_unstemmed | “Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation |
| title_short | “Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation |
| title_sort | liu liang chung syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant zeb2 gene gain mutation |
| topic | Liu-Liang-Chung syndrome ZEB2 Increase of gene dosage 2q22 Distinctive craniofacial features |
| url | https://doi.org/10.1186/s12887-023-04314-5 |
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