title: MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.
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.
authors.affiliation: 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.
authors.forename: Nisha
authors.initials: N
authors.lastname: Garg
authors.affiliation: 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.
authors.forename: Guney
authors.initials: G
authors.lastname: Bademci
authors.affiliation: 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.
authors.forename: Joseph
authors.initials: J
authors.lastname: Foster
authors.affiliation: Division of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Sıklar
authors.affiliation: Division of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoglu
authors.affiliation: 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: mtekin@med.miami.edu.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
mesh_terms: D000052:Acanthosis Nigricans / Q000235:genetics*; D044903:Congenital Hyperinsulinism / Q000235:genetics*; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics*; D013577:Syndrome
chemical_list: C494921:AKT2 protein, human; D051057:Proto-Oncogene Proteins c-akt