A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review
The KBG syndrome (KBGS) affects several systems caused by the mutation of the ANKRD11 gene. The main manifestations of KGBS included hearing loss, feeding difficulties, craniofacial abnormalities, tooth deformity, and developmental delay (delayed overall development, convulsions, and intellectual ab...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1565261/full |
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| author | Jie Gao Jie Gao Ruiqin Wang Zhen Pan Zhen Pan Ruolan Hu Ruolan Hu Mingyan Jiang Mingyan Jiang Jinrong Li Jinrong Li |
| author_facet | Jie Gao Jie Gao Ruiqin Wang Zhen Pan Zhen Pan Ruolan Hu Ruolan Hu Mingyan Jiang Mingyan Jiang Jinrong Li Jinrong Li |
| author_sort | Jie Gao |
| collection | DOAJ |
| description | The KBG syndrome (KBGS) affects several systems caused by the mutation of the ANKRD11 gene. The main manifestations of KGBS included hearing loss, feeding difficulties, craniofacial abnormalities, tooth deformity, and developmental delay (delayed overall development, convulsions, and intellectual abnormalities). Only 10%–26% of patients with KBG syndrome have congenital heart disease, including atrial and ventricular septal defects. Here, we report a case of KBG syndrome in a preterm newborn with low birth weight, a huge ventricular septal defect, and a congenital chylothorax. Whole-exome sequencing detected an ANKRD11 gene mutation in the infant. The finding expands the understanding of the clinical and genetic phenotype. The multidisciplinary consultation of the complex KGB syndrome including interventional occlusion, nutritional management, and rehabilitation training can improve the prognosis and outcome. |
| format | Article |
| id | doaj-art-b10eda68034e466796b61e2d5ab0946b |
| institution | OA Journals |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-b10eda68034e466796b61e2d5ab0946b2025-08-20T02:33:00ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-06-011310.3389/fped.2025.15652611565261A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature reviewJie Gao0Jie Gao1Ruiqin Wang2Zhen Pan3Zhen Pan4Ruolan Hu5Ruolan Hu6Mingyan Jiang7Mingyan Jiang8Jinrong Li9Jinrong Li10Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, ChinaMedical College, Mudanjiang Medical University, Mudanjiang, Heilongjiang, ChinaDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaWest China School of Medicine, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaWest China School of Medicine, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, ChinaDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan, ChinaThe KBG syndrome (KBGS) affects several systems caused by the mutation of the ANKRD11 gene. The main manifestations of KGBS included hearing loss, feeding difficulties, craniofacial abnormalities, tooth deformity, and developmental delay (delayed overall development, convulsions, and intellectual abnormalities). Only 10%–26% of patients with KBG syndrome have congenital heart disease, including atrial and ventricular septal defects. Here, we report a case of KBG syndrome in a preterm newborn with low birth weight, a huge ventricular septal defect, and a congenital chylothorax. Whole-exome sequencing detected an ANKRD11 gene mutation in the infant. The finding expands the understanding of the clinical and genetic phenotype. The multidisciplinary consultation of the complex KGB syndrome including interventional occlusion, nutritional management, and rehabilitation training can improve the prognosis and outcome.https://www.frontiersin.org/articles/10.3389/fped.2025.1565261/fullANKRD11congenital chylothoraxKBG syndromeprematureheterozygous mutation |
| spellingShingle | Jie Gao Jie Gao Ruiqin Wang Zhen Pan Zhen Pan Ruolan Hu Ruolan Hu Mingyan Jiang Mingyan Jiang Jinrong Li Jinrong Li A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review Frontiers in Pediatrics ANKRD11 congenital chylothorax KBG syndrome premature heterozygous mutation |
| title | A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review |
| title_full | A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review |
| title_fullStr | A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review |
| title_full_unstemmed | A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review |
| title_short | A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review |
| title_sort | novel heterozygous mutation of ankrd11 causes kbg syndrome in a preterm neonate a case report and literature review |
| topic | ANKRD11 congenital chylothorax KBG syndrome premature heterozygous mutation |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1565261/full |
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