TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C > T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA

Demiral M., Celebi H. B. G., CANDER S., Yerci O., EREN E., DEMİRBİLEK H.

ACTA ENDOCRINOLOGICA-BUCHAREST, cilt.18, sa.4, ss.458-465, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 4
  • Basım Tarihi: 2022
  • Doi Numarası: 10.4183/aeb.2022.458
  • Dergi Adı: ACTA ENDOCRINOLOGICA-BUCHAREST
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
  • Sayfa Sayıları: ss.458-465
  • Anahtar Kelimeler: GCK gene, MODY, insulinoma, hyperinsulinaemic hypoglycaemia, PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA, CONGENITAL HYPERINSULINISM, HETEROGENEITY, MANAGEMENT, DIAGNOSIS, CHILDREN
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Background. Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while loss-of-function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene mutation in a large family with GCK-MODY and insulinoma in one individual from the same family.