General Report

Clinical analysis of 8 children with BRAF gene variation

  • Yuexu OU ,
  • Yuanhui DUAN ,
  • Jie CAO ,
  • Jieling LI
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  • Department of Medical General Ward, Children’s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, National Clinical Research Center for Child Health and Disorders, Chongqing 400014, China

Received date: 2022-11-22

  Online published: 2023-09-05

Abstract

Objective To investigate the variants and clinical characteristics of BRAF gene. Methods The clinical data and types of gene variation in 8 cases of children with BRAF gene variation were retrospectively analyzed. Results Eight children had BRAF gene variations, four of which were derived from germ cells and the other four from somatic cells. The 4 patients with BRAF gene variations from germ cells all showed clinical features of cardio-facio-cutaneous (CFC) syndrome, which is an extremely rare disease. They all have special facial features, developmental retardation, skin and hair abnormalities, and some children also have epilepsy, heart malformation and other manifestations. They were all new variations in the BRAF gene, but the variation sites were different. Of the 4 children whose BRAF gene variations originated from somatic cells, 2 presented with Langerhans cell histiocytosis (LCH), and the other 2 presented with central nervous system malignant tumors. Conclusions When BRAF gene variation occurs in germ cells, children can develop severe developmental disorders that can present as clinical features of CFC syndrome. When BRAF gene variation occurs in somatic cells, it can cause tumors and LCH, etc.

Cite this article

Yuexu OU , Yuanhui DUAN , Jie CAO , Jieling LI . Clinical analysis of 8 children with BRAF gene variation[J]. Journal of Clinical Pediatrics, 2023 , 41(9) : 697 -702 . DOI: 10.12372/jcp.2023.22e1562

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