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

被引：12

作者：

Garg, Nisha ^{[1
,2
]}

Bademci, Guney ^{[1
,2
]}

Foster, Joseph, II ^{[1
,2
]}

Siklar, Zeynep ^{[3
]}

Berberoglu, Merih ^{[3
]}

Tekin, Mustafa ^{[1
,2
]}

机构：

[1] Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA

[2] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA

[3] Ankara Univ, Sch Med, Div Pediat Endocrinol, TR-06100 Ankara, Turkey

来源：

JOURNAL OF PEDIATRICS | 2015年 / 167卷 / 02期

关键词：

ACTIVATING MUTATION; INSULIN-RESISTANCE; PROTEIN;

D O I：

10.1016/j.jpeds.2015.04.069

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：489 / 491

页数：3

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