BDV syndrome is a novel syndrome characterized by morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism. It has been reported that mutations in CPE cause this syndrome. CPE encodes carboxypeptidase E, an enzyme that converts proneuropeptides and propeptide hormones to bioactive forms. It is widely expressed in the endocrine and central nervous system.
Alsters SI, Goldstone AP, Buxton JL, Zekavati A, Sosinsky A, Yiorkas AM, Holder S, Klaber RE, Bridges N, van Haelst MM, le Roux CW, Walley AJ, Walters RG, Mueller M, Blakemore AI
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Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.
Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, Kraus C, Wilson WG, Khan S, Krumbiegel M, Ekici AB, Uebe S, Trollmann R, Woelfle J, Reis A, Vasileiou G
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BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
