A case report of CHARGE syndrome caused by a de novo gene mutation
This article describes the case of a patient with CHARGE syndrome. The clinical data of the patient as well as the whole-genome sequencing results of the child and parents were retrospectively analyzed to determine the pathogenicity of the gene mutation. Genetic testing revealed a heterozygous mutat...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2024-11-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X241293307 |
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| author | Yuan Zhang Yu Lu Xicui Long Wenyu Xiong Yuqing Liu |
| author_facet | Yuan Zhang Yu Lu Xicui Long Wenyu Xiong Yuqing Liu |
| author_sort | Yuan Zhang |
| collection | DOAJ |
| description | This article describes the case of a patient with CHARGE syndrome. The clinical data of the patient as well as the whole-genome sequencing results of the child and parents were retrospectively analyzed to determine the pathogenicity of the gene mutation. Genetic testing revealed a heterozygous mutation of the CHD7 gene NM_017780.4: C.4853G >A (P.TP1618ter) in the child, which was identified as a de novo pathogenic mutation. Through this case, we conclude that genetic testing is crucial for accurate diagnosis of deafness. Moreover, paying attention to hearing screening in childhood and strengthening the cognitive level of diagnosis and treatment of syndromic deafness in multiple disciplines can effectively realize early detection, early diagnosis, early intervention, and early rehabilitation of syndromic deafness. |
| format | Article |
| id | doaj-art-1c382c0fbbeb487898e4fc4b1b652d1d |
| institution | DOAJ |
| issn | 2050-313X |
| language | English |
| publishDate | 2024-11-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj-art-1c382c0fbbeb487898e4fc4b1b652d1d2025-08-20T02:48:45ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2024-11-011210.1177/2050313X241293307A case report of CHARGE syndrome caused by a de novo gene mutationYuan Zhang0Yu Lu1Xicui Long2Wenyu Xiong3Yuqing Liu4Department of Audiology, Guizhou Provincial People’s Hospital, Guiyang, ChinaInstitute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, ChinaInstitute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, ChinaInstitute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, ChinaDepartment of Audiology, Guizhou Provincial People’s Hospital, Guiyang, ChinaThis article describes the case of a patient with CHARGE syndrome. The clinical data of the patient as well as the whole-genome sequencing results of the child and parents were retrospectively analyzed to determine the pathogenicity of the gene mutation. Genetic testing revealed a heterozygous mutation of the CHD7 gene NM_017780.4: C.4853G >A (P.TP1618ter) in the child, which was identified as a de novo pathogenic mutation. Through this case, we conclude that genetic testing is crucial for accurate diagnosis of deafness. Moreover, paying attention to hearing screening in childhood and strengthening the cognitive level of diagnosis and treatment of syndromic deafness in multiple disciplines can effectively realize early detection, early diagnosis, early intervention, and early rehabilitation of syndromic deafness.https://doi.org/10.1177/2050313X241293307 |
| spellingShingle | Yuan Zhang Yu Lu Xicui Long Wenyu Xiong Yuqing Liu A case report of CHARGE syndrome caused by a de novo gene mutation SAGE Open Medical Case Reports |
| title | A case report of CHARGE syndrome caused by a de novo gene mutation |
| title_full | A case report of CHARGE syndrome caused by a de novo gene mutation |
| title_fullStr | A case report of CHARGE syndrome caused by a de novo gene mutation |
| title_full_unstemmed | A case report of CHARGE syndrome caused by a de novo gene mutation |
| title_short | A case report of CHARGE syndrome caused by a de novo gene mutation |
| title_sort | case report of charge syndrome caused by a de novo gene mutation |
| url | https://doi.org/10.1177/2050313X241293307 |
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