Permanent Neonatal Diabetes Caused by a Novel Mutation.
Indian Pediatr
;
2012 June; 49(6): 486-488
Artículo
en Inglés
| IMSEAR
| ID: sea-169371
ABSTRACT
Most cases of permanent form of neonatal diabetes mellitus (PNDM) are due to dominant heterozygous gain of function (activating) mutations in either KCNJ11 or ABCC8 genes, that code for Kir 6.2 and SUR1 subunits, respectively of the pancreatic β-cell KATP channel. We describe the interesting case of an infant with PNDM, in whom a compound heterozygous activating/ inactivating mutation was found with clinically unaffected parents, each carrying a heterozygous mutation in ABCC8, one predicting gain of function (neonatal diabetes) and the other a loss of function (hyperinsulinemia).
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Índice:
IMSEAR (Asia Sudoriental)
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2012
Tipo del documento:
Artículo
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