A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism
Makaleler > Tam Makale · 2021
Yazarlar: Asude DURMAZ, Ayça AYKUT, Tahir ATİK, Samim ÖZEN, Emecen Ayyildiz, AYSUN ATA, Esra IŞIK, Ruhsar Damla GÖKŞEN, Muhsin Özgür ÇOĞULU, Feriştah Ferda ÖZKINAY
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2021, cilt 13, ss 52-60
DOI: 10.4274/jcrpe.galenos.2020.2020.0101
Özet
Objective: Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system. CPE knockout mice models exhibit disorders such as diabetes, hyperproinsulinaemia, low bone mineral density and neurodevelopmental disorders. Only one patient is described with morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotropic hypogonadism, which was associated with a homozygous frameshift deletion in CPE.