Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case report
Neuroblastoma is a childhood cancer characterized by the formation of tumors derived from neuroblasts. Identifying the genetic mutations underlying neuroblastoma for genetic counseling and early diagnosis is essential. Thus, this study aimed to screen for pathogenic gene variants within a neuroblast...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2024-02-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024026124 |
| _version_ | 1797267618617360384 |
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| author | Xiongwei Wu Wenli Xiu Na Zhou Jingli Zhang Xiwei Hao Qian Dong |
| author_facet | Xiongwei Wu Wenli Xiu Na Zhou Jingli Zhang Xiwei Hao Qian Dong |
| author_sort | Xiongwei Wu |
| collection | DOAJ |
| description | Neuroblastoma is a childhood cancer characterized by the formation of tumors derived from neuroblasts. Identifying the genetic mutations underlying neuroblastoma for genetic counseling and early diagnosis is essential. Thus, this study aimed to screen for pathogenic gene variants within a neuroblastoma family, aiming to contribute to genetic counseling practices. Clinical data was collected from a family affected by neuroblastoma, and peripheral blood DNA samples were obtained from all family members. A combination of whole-exome sequencing and Sanger sequencing was utilized to detect potential gene mutations. Proband 1 and her sister (Proband 2) were diagnosed with neuroblastoma, while their parents and siblings were unaffected. The analysis revealed a novel missense mutation, c.422G > A (p.Arg141Gln), in the PHOX2B gene, which was inherited from the mother. Notably, this mutation represents a previously unreported variant within the PHOX2B gene. Detecting the missense mutation c.422G > A (p.Arg141Gln) in the PHOX2B gene implies its potential pathogenic role within this neuroblastoma family. This finding widens the range of mutations observed in the PHOX2B gene and has important implications for early neuroblastoma diagnosis within this family. |
| first_indexed | 2024-03-07T22:54:29Z |
| format | Article |
| id | doaj.art-98cab648dc91471a80360758c3b39d84 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-25T01:19:27Z |
| publishDate | 2024-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-98cab648dc91471a80360758c3b39d842024-03-09T09:28:37ZengElsevierHeliyon2405-84402024-02-01104e26581Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case reportXiongwei Wu0Wenli Xiu1Na Zhou2Jingli Zhang3Xiwei Hao4Qian Dong5Department of Pediatric Surgery, Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Pediatric Surgery, Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Pediatric Surgery, Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Pediatric Surgery, Affiliated Hospital of Qingdao University, Qingdao, ChinaDepartment of Pediatric Surgery, Affiliated Hospital of Qingdao University, Qingdao, ChinaCorresponding author.; Department of Pediatric Surgery, Affiliated Hospital of Qingdao University, Qingdao, ChinaNeuroblastoma is a childhood cancer characterized by the formation of tumors derived from neuroblasts. Identifying the genetic mutations underlying neuroblastoma for genetic counseling and early diagnosis is essential. Thus, this study aimed to screen for pathogenic gene variants within a neuroblastoma family, aiming to contribute to genetic counseling practices. Clinical data was collected from a family affected by neuroblastoma, and peripheral blood DNA samples were obtained from all family members. A combination of whole-exome sequencing and Sanger sequencing was utilized to detect potential gene mutations. Proband 1 and her sister (Proband 2) were diagnosed with neuroblastoma, while their parents and siblings were unaffected. The analysis revealed a novel missense mutation, c.422G > A (p.Arg141Gln), in the PHOX2B gene, which was inherited from the mother. Notably, this mutation represents a previously unreported variant within the PHOX2B gene. Detecting the missense mutation c.422G > A (p.Arg141Gln) in the PHOX2B gene implies its potential pathogenic role within this neuroblastoma family. This finding widens the range of mutations observed in the PHOX2B gene and has important implications for early neuroblastoma diagnosis within this family.http://www.sciencedirect.com/science/article/pii/S2405844024026124NeuroblastomaMutationExonSequencingCase report |
| spellingShingle | Xiongwei Wu Wenli Xiu Na Zhou Jingli Zhang Xiwei Hao Qian Dong Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case report Heliyon Neuroblastoma Mutation Exon Sequencing Case report |
| title | Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case report |
| title_full | Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case report |
| title_fullStr | Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case report |
| title_full_unstemmed | Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case report |
| title_short | Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case report |
| title_sort | identifying a novel phox2b gene variant in a neuroblastoma family a case report |
| topic | Neuroblastoma Mutation Exon Sequencing Case report |
| url | http://www.sciencedirect.com/science/article/pii/S2405844024026124 |
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