• All affected individuals carried homozygous (the same defect in both CPE copies) mutations.
• All mutations were inactivating, resulting in loss of gene function (LoF)
• The CPE gene is responsible for producing the enzyme carboxypeptidase E, which plays an important role in the central nervous and endocrine system by converting immature forms of hormones and neuropeptides to active molecules. A non-functional CPE gene leads to impaired maturation of neuropeptides and peptide hormones in mouse models. These exhibit similar clinical manifestations with individuals with BDV syndrome.
CPE