| Accession |
PRJCA004266 |
| Title |
Whole-genome sequencing identifies novel candidate mutations associated with LVNC in a 3-generation family |
| Relevance |
Medical |
| Data types |
Whole genome sequencing
Variation
Genome sequencing
|
| Organisms |
Homo sapiens
|
| Description |
LVNC is a rare genetic cardiomyopathy of endocardial morphogenesis with the highest reported mortality rate at 38%. While 16%-42% of LVNC cases are familial, reports of LVNC-related genes are relatively limited, suggesting the genetic etiologies of LVNC remain largely unexplored. By screening the non-silent single nucleotide variants with phenotypic segregation, we identified 37 possible disease-causing variants in a 3-generation Chinese family. We hope that the results will be useful for the early diagnosis and management of LVNC in the future. |
| Sample scope |
Monoisolate |
| Release date |
2021-01-14 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Zhuhai People's Hospital
|
|
null
|
Xiangshan Talent Program
|
|
|
| Submitter |
Zhe
Zhang (amyzh69@gmail.com)
|
| Organization |
Zhuhai People's Hospital |
| Submission date |
2021-01-14 |
