| Accession |
PRJCA011812 |
| Title |
Novel deep intronic and frameshift mutations causing TRIP11-related disorder |
| Relevance |
Medical |
| Data types |
Figures
|
| Organisms |
Homo sapiens
|
| Description |
In this study, we presented a non-consanguineous family from China with two consecutive fetuses exhibiting obvious severe limb shortening. WES detected a novel frameshift mutation (NM_004239: c.3852delT) in TRIP11 in the fetus inherited from the mother. Using high-precision clinical exome sequencing (HPCES), we identified, in addition to c.3852delT, a deep intronic single base-pair mutation in TRIP11 (NM_004239: c.5457+77T>G) that was not detected by conventional exon-based sequencing because of the low coverage at this site. This mutation proved to affect the splicing of TRIP11 transcripts. |
| Sample scope |
Monoisolate |
| Release date |
2022-09-12 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| the National Key Research and Development Program of China
|
|
2018YFC1004900
|
|
| Key Research and Development Program of Zhejiang Province
|
|
2019C03025
|
|
|
|
| Submitter |
Minyue
Dong (dongmy@zju.edu.cn)
|
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission date |
2022-09-12 |
