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International Scientific Indexing (ISI) Indexed Journal Applied Medical Research ISSN: 2149 - 2018
Applied Medical Research. 2015; 1(2):(11-136)


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.