Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant

Hormone Research in Pædiatrics
Sabrina Anderson de la LlanaValerie M Schwitzgebel

Abstract

Transient and permanent neonatal diabetes mellitus (NDM), usually defined as diabetes diagnosed within the first 6 months of life, are rare conditions occurring in 1:90,000-260,000 live births. The origin of NDM is rarely related to type 1 diabetes, but rather to single gene defects. Genetic analysis was performed using targeted parallel sequencing including 323 diabetes genes. Data were filtered by a locally developed program. A very low birth weight neonate born at 28 weeks postmenstrual age developed diabetes 13 days after birth. The patient was treated with continuous subcutaneous insulin infusion. After 1 month, insulin treatment could be stopped. At 18 months of age, the child was normoglycemic and developing normally. Genetic analysis revealed a novel variant (p.Pro190Leu) in HNF4A, which is located in the ligand binding domain of the transcription factor, and the p.Glu23Lys variant in KCNJ11, which is associated with type 2 diabetes. Here, we describe a novel HNF4A variant associated with transient NDM in a premature infant. We hypothesize that the neonatal phenotype previously described in carriers of HNF4A mutations was modified by the additional variant in KCNJ11 and prematurity.

Citations

Mar 30, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Ranjit I KylatMohammed Y Bader
Mar 30, 2017·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·T KamounM Hachicha
May 2, 2020·Critical Reviews in Clinical Laboratory Sciences·Nicolas C NicolaidesIoannis Papassotiriou

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