Bibliographic Details
| Title: |
Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing. |
| Authors: |
Ma, Heqian1 (AUTHOR), Zhu, Lina2,3,4 (AUTHOR), Yang, Xiao2,3,4 (AUTHOR), Ao, Meng1 (AUTHOR), Zhang, Shunxiang1 (AUTHOR), Guo, Meizhen1 (AUTHOR), Dai, Xuelin1 (AUTHOR), Ma, Xiuwei2,3,4 (AUTHOR) pony007@vip.sina.com, Zhang, Xiaoying1,5,6 (AUTHOR) xiaoyingzhang79@163.com |
| Source: |
BMC Genomics. 4/22/2024, Vol. 25 Issue 1, p1-11. 11p. |
| Subject Terms: |
*CHILDREN with developmental disabilities, *DEVELOPMENTAL delay, *CHILDREN with intellectual disabilities, *AUDITORY evoked response, *CHINESE people, *INTELLECTUAL disabilities, *SINGLE nucleotide polymorphisms |
| Abstract: |
Developmental delay (DD), or intellectual disability (ID) is a very large group of early onset disorders that affects 1–2% of children worldwide, which have diverse genetic causes that should be identified. Genetic studies can elucidate the pathogenesis underlying DD/ID. In this study, whole-exome sequencing (WES) was performed on 225 Chinese DD/ID children (208 cases were sequenced as proband-parent trio) who were classified into seven phenotype subgroups. The phenotype and genomic data of patients with DD/ID were further retrospectively analyzed. There were 96/225 (42.67%; 95% confidence interval [CI] 36.15–49.18%) patients were found to have causative single nucleotide variants (SNVs) and small insertions/deletions (Indels) associated with DD/ID based on WES data. The diagnostic yields among the seven subgroups ranged from 31.25 to 71.43%. Three specific clinical features, hearing loss, visual loss, and facial dysmorphism, can significantly increase the diagnostic yield of WES in patients with DD/ID (P = 0.005, P = 0.005, and P = 0.039, respectively). Of note, hearing loss (odds ratio [OR] = 1.86%; 95% CI = 1.00-3.46, P = 0.046) or abnormal brainstem auditory evoked potential (BAEP) (OR = 1.91, 95% CI = 1.02–3.50, P = 0.042) was independently associated with causative genetic variants in DD/ID children. Our findings enrich the variation spectrums of SNVs/Indels associated with DD/ID, highlight the value genetic testing for DD/ID children, stress the importance of BAEP screen in DD/ID children, and help to facilitate early diagnose, clinical management and reproductive decisions, improve therapeutic response to medical treatment. [ABSTRACT FROM AUTHOR] |
|
Copyright of BMC Genomics is the property of BioMed Central and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
Academic Search Complete |
|
Full text is not displayed to guests. |
Login for full access.
|
