| Title |
Novel deep intronic and frameshift mutations causing TRIP11-related disorder |
| 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. |
| Organism |
Homo sapiens |
| Data Type |
Other Type of Image Data |
| Data Accessibility |
Open-access |
| BioProject |
PRJCA011812 |
| Release Date |
2023-01-01 |
| Submitter |
Minyue Dong (dongmy@zju.edu.cn) |
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission Date |
2022-09-13 |