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Article

Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2016

Courtney Rachel, Gamble Candace, Arango Monica L, Shah Avni, Rubio Nunilo I, Nguyen Joanne, Rodriguez-Buritica David

Abstract excerpt

Permanent neonatal diabetes (PNDM) is a rare genetic condition characterized by hyperglycemia, insulinopenia, and failure to thrive beginning in the first 6 months of life. Recessive mutations in INS lead to decreased production of insulin via a variety of mechanisms. We present a case of two brothers, born to consanguineous parents, with a novel homozygous intronic variant in the INS gene. Each patient presented...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27487489
DOI: 10.1515/jpem-2016-0040

Genes

INS

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