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

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

doi:10.1016/j.jpeds.2015.04.069

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

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

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article

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 language	English (US)
Pages (from-to)	489-491
Number of pages	3
Journal	Journal of Pediatrics
Volume	167
Issue number	2
DOIs	https://doi.org/10.1016/j.jpeds.2015.04.069
State	Published - Aug 1 2015

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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Garg, N., Bademci, G., Foster, J., Siklar, Z., Berberoglu, M., & Tekin, M. (2015). MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation. Journal of Pediatrics, 167(2), 489-491. https://doi.org/10.1016/j.jpeds.2015.04.069

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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.",

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