Novel deep intronic and frameshift mutations causing TRIP11-related disorder
| 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 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX001826-01 | Compound heterozygous mutation in TRIP11 in a fetus with severe limb shortening | 3 | Other Type of Image Data | 992.1 KB | tif | 0 | |
| OMIX001826-02 | Splicing analysis of c.5457+77T>G mutation | 3 | Other Type of Image Data | 539.7 KB | tif | 0 | |
| OMIX001826-03 | Reads of the two mutations from bam file | 3 | Other Type of Image Data | 636.2 KB | tif | 0 |