MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

Nisha Garg, Guney Bademci, Joseph Foster, Zeynep Siklar, Merih Berberoglu, Mustafa Tekin

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

We report a child with hypoinsulinemic hypoglycemia and distinctive facies, with a diagnosis of the previously described MORFAN (Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans) syndrome of unknown etiology. Whole-exome sequencing revealed a de novo AKT2 mutation. Although AKT2 has been implicated in four patients with hypoinsulinemic hypoglycemia, our report expands phenotypic spectrum to include MORFAN syndrome characteristics.

Original languageEnglish (US)
Pages (from-to)489-491
Number of pages3
JournalJournal of Pediatrics
Volume167
Issue number2
DOIs
StatePublished - Aug 1 2015

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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