Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease

Pathogenic variants of the junctional adhesion molecule 3 (JAM3/JAM-C; OMIM#606871) is the cause of the rare recessive disorder called hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC, OMIM#613730) disease. A similar phenotype is universal, including congenital cataracts and brain hemorrhages with high mortality rate in the first few weeks of life and with a poor neurologic outcome in survivors. We aim to describe and enlighten novel phenotype and genotype of a new patient and review the literature regarding all reported patients worldwide.

(Tameemi Abdallah Moady, Marwan Odeh, Ayalla Fedida, Zvi Segal, Maayan Gruber, Moshe Goldfeld, Limor Kalfon, Tzipora C Falik-Zaccai)