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Literature Review Of Human Hdr Syndrome With Gata3 Haplo Insufficiency, Olivia Ambursley-Gries

Honors Theses

This literature mining project is regarding mutations that cause hearing loss in patients with human hypo parathyroid, deafness, and renal dysplasia (HDR) syndrome caused by a mutation in the GATA3 gene. The disease is unique; not all diagnosed individuals present with all symptoms of the triad. Van Esh et al. found that the haploinsufficiency of the GATA3 is found on chromosome 10p14-p15 (ref.1). The focus of this work is to condense the literature on GATA3 haploinsufficiency correlating to human HDR syndrome. Due to the lack of global healthcare access, it can be assumed that many cases remain undiagnosed; 180 have …