| Autor: |
Sharma, Charu, Saini, Arunima, Gothwal, Meenakshi, Jhirwal, Manisha, Patwa, Payal |
| Předmět: |
|
| Zdroj: |
International Journal of Applied & Basic Medical Research; Apr-Jun2021, Vol. 11 Issue 2, p114-116, 3p |
| Abstrakt: |
Mitochondrial fission factor (MFF) gene mutations are rare mitochondrial fission disorders, resulting in autosomal recessive neurological disorders. We here report a rare case of MFF gene mutation running in a family which ultimately turned out to be a variant of unknown significance. A 29-year-old multigravida visited at 18-week gestation for prenatal genetic testing as her previous baby had cerebral palsy and global developmental delay. The exome sequencing of the affected baby revealed defective mitochondrial and peroxisomal fission 2 (AR-617086). On Sanger sequencing, the mother was homozygous and the father heterozygous for the same variant. In the current pregnancy, amniocentesis was done and the fetus was also homozygous for a similar mutation. The couple continued the pregnancy and delivered a healthy baby who had normal milestones at 11 months of age. As far as prenatal diagnostic testing is considered, our case is a real-world scenario, where patient expectations befuddle appropriate decision-making. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
