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

Details

Serval ID
serval:BIB_D553DF65B233
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant
Journal
Horm Res Paediatr
Author(s)
Anderson de la Llana S., Klee P., Santoni F., Stekelenburg C., Blouin J. L., Schwitzgebel V. M.
ISSN
1663-2826 (Electronic)
ISSN-L
1663-2818
Publication state
Published
Issued date
2015
Volume
84
Number
4
Pages
283-8
Language
english
Notes
Anderson de la Llana, Sabrina
Klee, Philippe
Santoni, Federico
Stekelenburg, Caroline
Blouin, Jean-Louis
Schwitzgebel, Valerie M
eng
Case Reports
Switzerland
Horm Res Paediatr. 2015;84(4):283-8. doi: 10.1159/000437378. Epub 2015 Aug 28.
Abstract
BACKGROUND: 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. METHODS: Genetic analysis was performed using targeted parallel sequencing including 323 diabetes genes. Data were filtered by a locally developed program. RESULTS: 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. CONCLUSION: 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.
Keywords
Diabetes Mellitus/drug therapy/*genetics, Female, Hepatocyte Nuclear Factor 4/*genetics, Humans, Hypoglycemic Agents/therapeutic use, Infant, Infant, Newborn, *Infant, Very Low Birth Weight, Insulin/therapeutic use, *Mutation, Treatment Outcome
Pubmed
Create date
20/05/2019 13:46
Last modification date
14/12/2019 7:26
Usage data