| Title |
Multisystem Disorder in Infant Caused by Compound Missense Variants in FARSA Gene |
| Description |
We described a Chinese male infant (proband) of the non-consanguineous couple who was diagnosed with Rajab interstitial lung disease [ILD] with brain calcifications 2(RILDBC2). By using Whole-exome sequencing and Sanger sequencing, the compound heterozygous missense mutations of FRASA: c.982A>G, p. T328A (maternally inherited) and c.1109T>C, p. F370S (paternally inherited) were identified and confirmed, which contributes to a new genetic foundation for prenatal diagnosis or PGT in this disease. |
| Organism |
Homo |
| Data Type |
Other Type of Genomic Data |
| Data Accessibility |
Controlled-access |
| BioProject |
PRJCA016033 |
| Release Date |
2026-01-02 |
| Submitter |
Minyue Dong (dongmy@zju.edu.cn) |
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission Date |
2023-04-04 |