Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss
To improve the etiological diagnosis of congenital hearing loss by combining whole-exome sequencing (WES) with cytomegalovirus (CMV) testing and to explore the potential benefits of adding CMV screening to newborn hearing screening, 80 children under 2 years of age with bilateral sensorineural heari...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-09-01
|
| Series: | Journal of Clinical Medicine |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2077-0383/11/18/5335 |
| _version_ | 1797486709740404736 |
|---|---|
| author | Yuan Jin Xiaozhou Liu Sen Chen Jiale Xiang Zhiyu Peng Yu Sun |
| author_facet | Yuan Jin Xiaozhou Liu Sen Chen Jiale Xiang Zhiyu Peng Yu Sun |
| author_sort | Yuan Jin |
| collection | DOAJ |
| description | To improve the etiological diagnosis of congenital hearing loss by combining whole-exome sequencing (WES) with cytomegalovirus (CMV) testing and to explore the potential benefits of adding CMV screening to newborn hearing screening, 80 children under 2 years of age with bilateral sensorineural hearing loss were recruited. Peripheral venous blood was extracted from the children for WES analysis. Saliva after mouthwash and the first urine in the morning were collected and used as samples to quantify CMV DNA copy number in urine and saliva by qPCR; among the 80 children with congenital deafness, 59 (74%) were found to have genetic variants that may cause congenital deafness, including 44 with <i>GJB2</i> or <i>SLC26A4</i> gene variant, 1 with <i>STRC</i> gene variant, and 14 with other genetic variants. A total of 12 children carried deafness gene variants associated with a syndrome; CMV test results showed that in two children, the CMV DNA copy number in saliva was >1000/mL, which indicates that they were CMV-positive, and their genetic test results were negative. A neonatal CMV test combined with genetic screening can improve the etiological diagnosis rate of congenital deafness, and the direct evidence of neonatal CMV infection deserves further verification. |
| first_indexed | 2024-03-09T23:37:09Z |
| format | Article |
| id | doaj.art-92a9d722a446437ca30d2a88bbe0b285 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T23:37:09Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-92a9d722a446437ca30d2a88bbe0b2852023-11-23T16:58:57ZengMDPI AGJournal of Clinical Medicine2077-03832022-09-011118533510.3390/jcm11185335Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing LossYuan Jin0Xiaozhou Liu1Sen Chen2Jiale Xiang3Zhiyu Peng4Yu Sun5Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, ChinaCollege of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaTo improve the etiological diagnosis of congenital hearing loss by combining whole-exome sequencing (WES) with cytomegalovirus (CMV) testing and to explore the potential benefits of adding CMV screening to newborn hearing screening, 80 children under 2 years of age with bilateral sensorineural hearing loss were recruited. Peripheral venous blood was extracted from the children for WES analysis. Saliva after mouthwash and the first urine in the morning were collected and used as samples to quantify CMV DNA copy number in urine and saliva by qPCR; among the 80 children with congenital deafness, 59 (74%) were found to have genetic variants that may cause congenital deafness, including 44 with <i>GJB2</i> or <i>SLC26A4</i> gene variant, 1 with <i>STRC</i> gene variant, and 14 with other genetic variants. A total of 12 children carried deafness gene variants associated with a syndrome; CMV test results showed that in two children, the CMV DNA copy number in saliva was >1000/mL, which indicates that they were CMV-positive, and their genetic test results were negative. A neonatal CMV test combined with genetic screening can improve the etiological diagnosis rate of congenital deafness, and the direct evidence of neonatal CMV infection deserves further verification.https://www.mdpi.com/2077-0383/11/18/5335cytomegaloviruscongenital hearing lossscreeninggenetic testing |
| spellingShingle | Yuan Jin Xiaozhou Liu Sen Chen Jiale Xiang Zhiyu Peng Yu Sun Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss Journal of Clinical Medicine cytomegalovirus congenital hearing loss screening genetic testing |
| title | Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss |
| title_full | Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss |
| title_fullStr | Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss |
| title_full_unstemmed | Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss |
| title_short | Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss |
| title_sort | analysis of the results of cytomegalovirus testing combined with genetic testing in children with congenital hearing loss |
| topic | cytomegalovirus congenital hearing loss screening genetic testing |
| url | https://www.mdpi.com/2077-0383/11/18/5335 |
| work_keys_str_mv | AT yuanjin analysisoftheresultsofcytomegalovirustestingcombinedwithgenetictestinginchildrenwithcongenitalhearingloss AT xiaozhouliu analysisoftheresultsofcytomegalovirustestingcombinedwithgenetictestinginchildrenwithcongenitalhearingloss AT senchen analysisoftheresultsofcytomegalovirustestingcombinedwithgenetictestinginchildrenwithcongenitalhearingloss AT jialexiang analysisoftheresultsofcytomegalovirustestingcombinedwithgenetictestinginchildrenwithcongenitalhearingloss AT zhiyupeng analysisoftheresultsofcytomegalovirustestingcombinedwithgenetictestinginchildrenwithcongenitalhearingloss AT yusun analysisoftheresultsofcytomegalovirustestingcombinedwithgenetictestinginchildrenwithcongenitalhearingloss |