CASE REPORT article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1565261
A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review
Provisionally accepted
- 1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China
- 2Key Laboratory of Birth Defects and Related Diseases of Women and Children, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China
- 3Mudanjiang Medical University, Mudanjiang, China
- 4West China School of Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
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The KBG syndrome (KBGS) affects several systems caused by the mutation of ANKRD11 gene. The main manifestation of KGBS included the 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 with a huge ventricular septal defects 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 Jie 删除[ooo]:
Keywords: ANKRD11, Congenital chylothorax, KBG syndrome, premature, Heterozygous mutation
Received: 22 Jan 2025; Accepted: 26 May 2025.
Copyright: © 2025 Jie, Wang, Pan, Hu, Jiang and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Mingyan Jiang, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China
Jinrong Li, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China
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