International Journal of Applied and Basic Medical Research

CASE REPORT
Year
: 2021  |  Volume : 11  |  Issue : 2  |  Page : 114--116

Mitochondrial fission factor gene mutation: A dilemma for prenatal diagnosis


Charu Sharma, Arunima Saini, Meenakshi Gothwal, Manisha Jhirwal, Payal Patwa 
 Departments of Obstetrics and Gynaecology, AIIMS, Jodhpur, Rajasthan, India

Correspondence Address:
Charu Sharma
Department of Obstetrics and Gynaecology, AIIMS, Jodhpur, Rajasthan
India

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.


How to cite this article:
Sharma C, Saini A, Gothwal M, Jhirwal M, Patwa P. Mitochondrial fission factor gene mutation: A dilemma for prenatal diagnosis.Int J App Basic Med Res 2021;11:114-116


How to cite this URL:
Sharma C, Saini A, Gothwal M, Jhirwal M, Patwa P. Mitochondrial fission factor gene mutation: A dilemma for prenatal diagnosis. Int J App Basic Med Res [serial online] 2021 [cited 2021 Aug 4 ];11:114-116
Available from: https://www.ijabmr.org/article.asp?issn=2229-516X;year=2021;volume=11;issue=2;spage=114;epage=116;aulast=Sharma;type=0