Cantu syndrome induced by gene mutation: a case report
Cantu syndrome is a hyperhairy osteochondroplasia syndrome caused by abnormal function of ATP-dependent potassium ion channel, involving multiple systems, mainly manifested as hyperhairy body, skeletal muscle abnormalities and heart disease, etc. In this article, clinical data and gene sequencing re...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of New Medicine
2022-11-01
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| Series: | Xin yixue |
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| Online Access: | https://www.xinyixue.cn/fileup/0253-9802/PDF/1669968384863-1113260953.pdf |
| _version_ | 1811206532840292352 |
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| author | Xu Dong, Huang Yongjian |
| author_facet | Xu Dong, Huang Yongjian |
| author_sort | Xu Dong, Huang Yongjian |
| collection | DOAJ |
| description | Cantu syndrome is a hyperhairy osteochondroplasia syndrome caused by abnormal function of ATP-dependent potassium ion channel, involving multiple systems, mainly manifested as hyperhairy body, skeletal muscle abnormalities and heart disease, etc. In this article, clinical data and gene sequencing results of a 10-month-old boy with Cantu syndrome were reported. He mainly presented with special facial features, and with congenital heart disease and recurrent respiratory tract infections. The results of whole exon gene sequencing showed that the child had missense mutation in exon 9 of ABCC9 gene, c.1138G > A (p.Gly380Ser). This mutation has not been previously reported. Genetic testing is helpful to early diagnosis of Cantu syndrome and guide the eugenics. |
| first_indexed | 2024-04-12T03:48:42Z |
| format | Article |
| id | doaj.art-8f5a17fbfe11459e969a7d9d4d367e5f |
| institution | Directory Open Access Journal |
| issn | 0253-9802 |
| language | zho |
| last_indexed | 2024-04-12T03:48:42Z |
| publishDate | 2022-11-01 |
| publisher | Editorial Office of Journal of New Medicine |
| record_format | Article |
| series | Xin yixue |
| spelling | doaj.art-8f5a17fbfe11459e969a7d9d4d367e5f2022-12-22T03:49:03ZzhoEditorial Office of Journal of New MedicineXin yixue0253-98022022-11-01531185285510.3969/j.issn.0253-9802.2022.11.013Cantu syndrome induced by gene mutation: a case reportXu Dong, Huang Yongjian0Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, ChinaCantu syndrome is a hyperhairy osteochondroplasia syndrome caused by abnormal function of ATP-dependent potassium ion channel, involving multiple systems, mainly manifested as hyperhairy body, skeletal muscle abnormalities and heart disease, etc. In this article, clinical data and gene sequencing results of a 10-month-old boy with Cantu syndrome were reported. He mainly presented with special facial features, and with congenital heart disease and recurrent respiratory tract infections. The results of whole exon gene sequencing showed that the child had missense mutation in exon 9 of ABCC9 gene, c.1138G > A (p.Gly380Ser). This mutation has not been previously reported. Genetic testing is helpful to early diagnosis of Cantu syndrome and guide the eugenics.https://www.xinyixue.cn/fileup/0253-9802/PDF/1669968384863-1113260953.pdf|cantu syndrome|osteochondroplasia syndrome|potassium ion channel|abcc9 gene |
| spellingShingle | Xu Dong, Huang Yongjian Cantu syndrome induced by gene mutation: a case report Xin yixue |cantu syndrome|osteochondroplasia syndrome|potassium ion channel|abcc9 gene |
| title | Cantu syndrome induced by gene mutation: a case report |
| title_full | Cantu syndrome induced by gene mutation: a case report |
| title_fullStr | Cantu syndrome induced by gene mutation: a case report |
| title_full_unstemmed | Cantu syndrome induced by gene mutation: a case report |
| title_short | Cantu syndrome induced by gene mutation: a case report |
| title_sort | cantu syndrome induced by gene mutation a case report |
| topic | |cantu syndrome|osteochondroplasia syndrome|potassium ion channel|abcc9 gene |
| url | https://www.xinyixue.cn/fileup/0253-9802/PDF/1669968384863-1113260953.pdf |
| work_keys_str_mv | AT xudonghuangyongjian cantusyndromeinducedbygenemutationacasereport |