Parents

Cause
BDV (Blakemore-Durmaz-Vasileiou) syndrome is a newly described genetic disease caused by defects (mutations) in the CPE gene, which is responsible for producing the enzyme carboxypeptidase E. This enzyme converts hormones into their active form, and plays an important role in the brain and endocrine system. The most noticeable symptoms of this disease are obesity in early childhood and delayed development, clinical manifestations similar to that of  the well-described Prader-Willi syndrome. To date, 8 patients with CPE mutations from 5 unrelated families have been described in the literature.

Prevalence
There are no sufficient data to estimate the number of patients with a pending BDV diagnosis, to date.

Inheritance
BDV syndrome is inherited in an autosomal recessive manner, which means that the patient has two defective copies of the CPE gene: one copy is inherited from the mother and one from the father. Parents of all described BDV cases were blood related and carried one defective copy of the gene without however to be affected by the condition. In the affected families the risk for additional children with BDV syndrome is, independently of the child’s gender, 25%.