A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young

Acar S., ABACI A., DEMİR K., Ozdemir T. R., Ozyilmaz B., BÖBER E.

JOURNAL OF PEDIATRIC RESEARCH, cilt.5, sa.3, ss.156-160, 2018 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 5 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr.60252
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.156-160
  • Anahtar Kelimeler: Maturity-onset diabetes of the young Type I, macrosomia, HNF4A, monogenic diabetes, child, HYPERINSULINEMIC HYPOGLYCEMIA, TURKISH CHILDREN, GENE-MUTATIONS, MODY, DIAGNOSIS, MANAGEMENT, GCK
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with autosomal-dominant inheritance, which usually develops before 25 years of age. MODY is classically caused by a heterozygous mutation of genes known to affect insulin production or secretion. Heterozygous inactivating hepatocyte nuclear factor 4A (HNF4A) mutations, one of the rare subtypes of MODY, cause impaired insulin secretion and subsequent glucose intolerance especially in adolescence. Conversely, HNF4A mutations are also known to be associated with macrosomia and hyperinsulinemic hypoglycemia in newborns. Herein, we report a rare cause of diabetes resulting from a novel heterozygous mutation in the HNF4A gene. In conclusion, genetic testing should be considered in order to establish an accurate diagnosis and provide an opinion in determining the appropriate type of treatment.