Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma
Background: Mutations in PRKAR1A gene can lead to Carney complex (CNC), and most CNC patients develop cardiac and cutaneous myxomas. In particular, cardiac myxomas are a common cause of mortality in CNC patients. Cutaneous myxomas of the external ear are extremely rare, and do not have any specific...
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Frontiers Media S.A.
2022-08-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.947305/full |
| _version_ | 1818513037532856320 |
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| author | Wei Wan Liang Zeng Hongqun Jiang Hongqun Jiang Yunyan Xia Yunyan Xia Yuanping Xiong Yuanping Xiong |
| author_facet | Wei Wan Liang Zeng Hongqun Jiang Hongqun Jiang Yunyan Xia Yunyan Xia Yuanping Xiong Yuanping Xiong |
| author_sort | Wei Wan |
| collection | DOAJ |
| description | Background: Mutations in PRKAR1A gene can lead to Carney complex (CNC), and most CNC patients develop cardiac and cutaneous myxomas. In particular, cardiac myxomas are a common cause of mortality in CNC patients. Cutaneous myxomas of the external ear are extremely rare, and do not have any specific clinical featuresMethods: In this retrospective study, we analyzed the clinical and genetic data of the proband and his family and fifty whole blood control samples selected from the molecular genetic database of our hospital. Whole exome DNA sequencing analysis was used to detect the mutation in the peripheral blood samples.Results: The results of the clinical analysis showed the presence of spotty skin pigmentation and external auditory canal myxoma in the proband as well as in his sister and mother. Whole-exome DNA sequencing showed a novel heterozygous mutation in the PRKAR1A gene i.e., c.824_825delAG (p.Gln275Leufs*2), in the proband and his sister and mother.Conclusion: In conclusion, the family members had the same autosomal dominant PRKAR1A mutation. DNA sequencing revealed a novel c.824_825delAG in exon 9 of PRKAR1A. This pathogenic mutation has not been reported previously, and may be related to the occurrence of external auditory canal myxomas and spotty pigmentation. This study broadens the genotypic spectrum of PRKAR1A mutations in CNC. |
| first_indexed | 2024-12-10T23:55:28Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-10T23:55:28Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-d1b7554df2c44e1bb24db1b5514509ba2022-12-22T01:28:36ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-08-011310.3389/fgene.2022.947305947305Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxomaWei Wan0Liang Zeng1Hongqun Jiang2Hongqun Jiang3Yunyan Xia4Yunyan Xia5Yuanping Xiong6Yuanping Xiong7Department of Otolaryngology-Head and Neck Surgery, First Affiliated Hospital of Nangchang University, Jiangxi, ChinaDepartment of Otolaryngology-Head and Neck Surgery, First Affiliated Hospital of Nangchang University, Jiangxi, ChinaDepartment of Otolaryngology-Head and Neck Surgery, First Affiliated Hospital of Nangchang University, Jiangxi, ChinaJiangxi Institute of Otorhinolaryngology-Head and Neck Surgery, Jiangxi, ChinaDepartment of Otolaryngology-Head and Neck Surgery, First Affiliated Hospital of Nangchang University, Jiangxi, ChinaJiangxi Institute of Otorhinolaryngology-Head and Neck Surgery, Jiangxi, ChinaDepartment of Otolaryngology-Head and Neck Surgery, First Affiliated Hospital of Nangchang University, Jiangxi, ChinaJiangxi Institute of Otorhinolaryngology-Head and Neck Surgery, Jiangxi, ChinaBackground: Mutations in PRKAR1A gene can lead to Carney complex (CNC), and most CNC patients develop cardiac and cutaneous myxomas. In particular, cardiac myxomas are a common cause of mortality in CNC patients. Cutaneous myxomas of the external ear are extremely rare, and do not have any specific clinical featuresMethods: In this retrospective study, we analyzed the clinical and genetic data of the proband and his family and fifty whole blood control samples selected from the molecular genetic database of our hospital. Whole exome DNA sequencing analysis was used to detect the mutation in the peripheral blood samples.Results: The results of the clinical analysis showed the presence of spotty skin pigmentation and external auditory canal myxoma in the proband as well as in his sister and mother. Whole-exome DNA sequencing showed a novel heterozygous mutation in the PRKAR1A gene i.e., c.824_825delAG (p.Gln275Leufs*2), in the proband and his sister and mother.Conclusion: In conclusion, the family members had the same autosomal dominant PRKAR1A mutation. DNA sequencing revealed a novel c.824_825delAG in exon 9 of PRKAR1A. This pathogenic mutation has not been reported previously, and may be related to the occurrence of external auditory canal myxomas and spotty pigmentation. This study broadens the genotypic spectrum of PRKAR1A mutations in CNC.https://www.frontiersin.org/articles/10.3389/fgene.2022.947305/fullcarney complexPRKAR1A genemutation-geneticsexternal auditory canal myxomapediatrics |
| spellingShingle | Wei Wan Liang Zeng Hongqun Jiang Hongqun Jiang Yunyan Xia Yunyan Xia Yuanping Xiong Yuanping Xiong Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma Frontiers in Genetics carney complex PRKAR1A gene mutation-genetics external auditory canal myxoma pediatrics |
| title | Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma |
| title_full | Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma |
| title_fullStr | Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma |
| title_full_unstemmed | Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma |
| title_short | Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma |
| title_sort | genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma |
| topic | carney complex PRKAR1A gene mutation-genetics external auditory canal myxoma pediatrics |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.947305/full |
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