A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation

E Tutak; M Satar; H Yapicioğlu; A Altintaş; N Narli; O Hergüner; Y Bayram

A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation

Genet Couns. 2009;20(2):147-52.

Authors

E Tutak¹, M Satar, H Yapicioğlu, A Altintaş, N Narli, O Hergüner, Y Bayram

Affiliation

¹ Cukurova University, Faculty of Medicine, Department of Pediatrics, Division of Neonatology, Adana, Turkey.

PMID: 19650412

Abstract

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.

MeSH terms

Cerebellum / abnormalities*
Cerebellum / parasitology
Consanguinity
Cordocentesis
DNA Mutational Analysis*
Diabetes Mellitus, Type 1 / diagnosis
Diabetes Mellitus, Type 1 / genetics*
Fetal Growth Retardation / genetics
Frameshift Mutation
Genetic Carrier Screening
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Male
Pedigree
Respiratory Distress Syndrome, Newborn / diagnosis
Respiratory Distress Syndrome, Newborn / genetics
Transcription Factors / genetics*

Substances

Transcription Factors
transcription factor PTF1