TY - JOUR
T1 - MORFAN Syndrome
T2 - An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation
AU - Garg, Nisha
AU - Bademci, Guney
AU - Foster, Joseph
AU - Siklar, Zeynep
AU - Berberoglu, Merih
AU - Tekin, Mustafa
N1 - Funding Information:
Supported by the Hayward Foundation . The authors declare no conflicts of interest.
Publisher Copyright:
© 2015 Elsevier Inc.
Copyright:
Copyright 2015 Elsevier B.V., All rights reserved.
PY - 2015/8/1
Y1 - 2015/8/1
N2 - 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.
AB - 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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U2 - 10.1016/j.jpeds.2015.04.069
DO - 10.1016/j.jpeds.2015.04.069
M3 - Article
C2 - 26003998
AN - SCOPUS:84937729046
VL - 167
SP - 489
EP - 491
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 2
ER -