BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
Elisabeth BoschMoritz HebebrandBernt PoppTheresa PengerBettina BehringHelen CoxShelley TownerCornelia KrausWilliam G WilsonShagufta KhanMandy KrumbiegelArif B EkiciSteffen UebeRegina TrollmannJoachim WoelfleAndré ReisGeorgia VasileiouPublished in: The Journal of clinical endocrinology and metabolism (2021)
Biallelic truncating CPE variants are associated with BDV syndrome, a clinically recognizable monogenic recessive syndrome with childhood-onset obesity, neurodevelopmental delay, hypogonadotropic hypogonadism, and hypothyroidism. BDV syndrome resembles PWS. Our findings suggest missense variants may also be clinically relevant.