The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.

Sara Al-KhawagaIdris MohammedSaras SaraswathiBasma HarisReem HasnahAmira SaeedHakeem AlmabraziNajeeb SyedPuthen JitheshAhmed El AwwaAmal KhalifaFawziya AlKhalafGoran PetrovskiEssam M AbdelalimKhalid Hussain

Published in: Molecular genetics & genomic medicine (2019)

Qatar has the second highest reported incidence of PNDM worldwide. A majority of PNDM cases present as rare familial autosomal recessive disorders. Pancreas associated transcription factor 1a (PTF1A) enhancer deletions are the most common cause of PNDM in Qatar, with only a few previous cases reported in the literature.

Keyphrases

transcription factor
type diabetes
cardiovascular disease
systematic review
risk factors
genome wide
dna binding
intellectual disability
early onset
copy number
binding protein
metabolic syndrome
dna methylation