EP05.58: JAM 3 gene mutation may be responsible recurrent brain hemorrage and cataract

We had patient around 26 week and during scan demonstrated abnormal periventricular zone and cataract. According anamnesis the family previous child was born and died due to brain hemorrage. We performed Fetal MRI. Fetal MRI supported ultrasound findings and confirmed brain hemorrage and affected periventricular zone. We advised family WES. WES came JAM 3 gene mutation class 3 (uncertain significance). But we assume that in this case phenotype correlated very strong with genotype and this variant. JAM3 mutation can be significant also. JAM 3 (Junctional Adhesion Molecule 3) is a protein involved in the formation and maintenance of tight junctions between cells in the brain's blood vessels. These tight junctions play a crucial role in regulating the exchange of molecules and cells between the blood and the brain, which is essential for the normal functioning of the brain. Mutations in the JAM 3 gene have been linked to various neurological disorders, including brain hemorrhage. Brain hemorrhage is a medical condition characterised by bleeding in the brain, which can be life-threatening. Studies have shown that mutations in the JAM 3 gene can disrupt the normal functioning of tight junctions in the brain's blood vessels, leading to increased permeability and susceptibility to hemorrhage. Further research is needed to fully understand the relationship between JAM 3 gene mutations and brain hemorrhage. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.