GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.

Introduction: GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema with hematological anomalies and an increased risk for myelodysplasia and leukemia.

Objective: To describe a family with Emberger syndrome with incomplete penetrance.

Methods: A DNA sequencing of GATA2 gene was performed in the parents and offspring (five individuals in total).

[Glucotransporters: clinical, molecular and genetic aspects].

Oxidation of glucose is the major source of obtaining cell energy, this process requires glucose transport into the cell. However, cell membranes are not permeable to polar molecules such as glucose; therefore its internalization is accomplished by transporter proteins coupled to the cell membrane. In eukaryotic cells, there are two types of carriers coupled to the membrane: 1) cotransporter Na+-glucose (SGLT) where Na+ ion provides motive power for the glucose´s internalization, and 2) the glucotransporters (GLUT) act by facilitated diffusion.