Identification of insulin gene variants in neonatal diabetes.
J Matern Fetal Neonatal Med
; 30(9): 1035-1040, 2017 May.
Article
en En
| MEDLINE
| ID: mdl-27279137
ABSTRACT
OBJECTIVES:
Permanent neonatal diabetes (PNDM) is caused by mutations in the genes responsible for the synthesis of different proteins that are important for the normal behavior of beta cells in the pancreas. Mutations in the insulin gene (INS) are considered as one of the causes of diabetes in neonates. This study aimed to investigate the genetic variations in the INS gene in a group of Egyptian infants diagnosed with PNDM.METHODS:
We screened exons 2 and 3 with intronic boundaries of the INS gene by direct gene sequencing in 30 PNDM patients and 20 healthy controls. A detailed clinical phenotyping of the patients was carried out to specify the diabetes features in those found to carry an INS variant.RESULTS:
We identified five variants (four SNPs and one synonymous variant), c(0).187 + 11T > C, c.-17-6T > A, c.*22A > C, c.*9C > T, and c.36G > A (p.A12A), with allelic frequencies of 96.7%, 80%, 75%, 5%, and 1.7%, respectively. All showed no statistically significance difference compared with the controls, with the exception of c.*22A > C.CONCLUSION:
Genetic screening for the INS gene did not reveal an evident role in the diagnosis of PNDM.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Variación Genética
/
Diabetes Mellitus
/
Insulina
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
Límite:
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
J Matern Fetal Neonatal Med
Asunto de la revista:
OBSTETRICIA
/
PERINATOLOGIA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Egipto