A TURKISH NEWBORN INFANT WITH CEREBELLAR AGENESIS/NEONATAL DIABETES MELLITUS AND PTF1A MUTATION

TUTAK E., SATAR M., YAPICIOGLU H., ALTINTAS A., NARLI N., HERGUENER O., ...Daha Fazla

GENETIC COUNSELING, cilt.20, sa.2, ss.147-152, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 2
  • Basım Tarihi: 2009
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.147-152
  • Anahtar Kelimeler: Cerebellar agenesis, PTF1A mutation, Neonatal diabetes mellitus
  • Çukurova Üniversitesi Adresli: Evet

Özet

A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation: Classical neonatal diabetes mellitus is defined as hyperglycemia that occurs within the first month of life in term infants. It can be either permanent or transient. Cerebellar agenesis and permanent neonatal diabetes has been previously reported as a new autosomal recessive disorder. Pancreas Transcription Factor 1 Alpha (PTF1A) mutations have been related with this constellation of abnormalities. Here we report a new case of cerebellar agenesis and neonatal diabetes mellitus whose parents are PTF1A mutation carriers.