Applied Medical Research. 2015;
1(2):(11-155)
Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child
Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann
Abstract
We present the rare case of a 5-year-old boy with developmental delay and microcephalus. Deletion of tumor suppressor candidate 3 gene (TUSC 3) on chromosome 8p was found. It was localized in the gene region 8p22 with the loss of 51.5 kb. The same deletion was found in the 31-years-old father, the mother was negative for this entity. The function of TUSC 3 gene is yet not completely known, and this is one the first published cases in world literature.