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

Nisha Garg; Guney Bademci; Joseph Foster 2nd; Zeynep Sıklar; Merih Berberoglu; Mustafa Tekin

doi:10.1016/j.jpeds.2015.04.069

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

J Pediatr. 2015 Aug;167(2):489-91. doi: 10.1016/j.jpeds.2015.04.069. Epub 2015 May 23.

Authors

Nisha Garg¹, Guney Bademci¹, Joseph Foster 2nd¹, Zeynep Sıklar², Merih Berberoglu², Mustafa Tekin³

Affiliations

¹ Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
² Division of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
³ Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL. Electronic address: [email protected].

PMID: 26003998
DOI: 10.1016/j.jpeds.2015.04.069

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Acanthosis Nigricans / genetics*
Congenital Hyperinsulinism / genetics*
Facies*
Female
Growth Disorders / genetics*
Humans
Infant
Intellectual Disability / genetics*
Proto-Oncogene Proteins c-akt / genetics*
Syndrome

Substances

AKT2 protein, human
Proto-Oncogene Proteins c-akt