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"Thanks to new Multiplicom test kits physicians are able to identify all the genetic mutations of a condition at once, and use this information to initiate the right - personalized - treatment.”

Congenital hyperinsulinism caused by a de novo mutation in the ABCC8 gene – a case report

Zsuzsanna Molnár1 , Lídia Balogh2 , János Kappelmayer1 , László Madar1 , Éva Gombos1 , István Balogh1 1 Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary 2 First Department of Pediatrics, Semmelweis University, Budapest, Hungary

Source: JIFCC - February 2017


Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of a term male infant presented with severe hyperinsulinaemic hypoglycaemia. Gene panel testing was performed to give rapid genetic diagnosis. We detected the c.4415-13G>A heterozygous mutation in the ABCC8 gene. Targeted genetic testing of the parents proved the de novo origin of the mutation. The mutation has been previously described. The infant received octreotide treatment and is prepared for 18-fluoro-dopa PET-CT examination in order to localize the lesion. Rapid genetic testing might be crucial in the clinical management strategy, with decision algorithms taking into account of the genetic status of the patient.
Next-generation panel gene sequencing was performed on a Roche GS Junior DNA sequencer using a Multiplicom MODY MASTR Kit which contains the following genes: ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS and KCNJ11. The detected mutation was confirmed by Sanger sequencing.


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