Molecular spectrum
Blackmore-Durmaz-Vasileiou syndrome (BDV syndrome) is an emerging autosomal recessive genetic entity due to biallelic loss-of-function mutations in CPE gene. CPE gene encodes the enzyme carboxypeptidase E. To date, 8 affected individuals from 5 unrelated; consanguineous families have been described in the literature.
Clinical presentation
Core clinical feautures are moderate neurodevelopmental delay with intellectual disability, speech and motor deficits, childhood-onset, morbid obesity, hyperphagia, mild infantile muscular hypotonia and endocrine anomalies including hypogonadotropic hypogonadism, hypothyroidism and insulin resistance or diabetes. Given the overlapping clinical presentation, BDV syndrome is an important differential diagnosis of Prader-Willi syndrome.
Prevalence
The prevalence of BDV syndrome is unknown and cannot be estimated at present due to the few cases described in the literature so far.
Inheritance
Due to the autosomal resessive inheritance, the recurrence risk to the siblings of an affected individual is 25%.
CPE