Systematic research on the genetic factors of short stature has been conducted in Mäkitie’s research group for a couple of decades. With new genetic methods, it is increasingly possible to identify hereditary defects that cause short stature in children.
In the study, a genetic defect was identified in a new gene that had not previously been associated with growth. This discovery led to international collaboration led by a research group at the National Institutes of Health (NIH) in the United States.
An article published in the journal Science describes the results of the international collaborative study, in which genetic defects in the GNAI2 gene were identified in 20 patients. The study describes a new syndrome belonging to the so-called rasopathies class, which, in addition to growth, involves dysfunction of several organs and systems, notably the immune system.
International collaboration is important in the research of rare diseases to identify new syndromes. As the spectrum of diseases expands, we also learn more about the normal regulation of growth and the physiological significance of different signaling pathways in cells. Rare hereditary short stature can be associated with other possible related problems, which is why an accurate diagnosis is important.
This study was funded primarily by the NIH’s National Institute of Allergy and Infectious Diseases.
Research Article: Germline mutations in a G-protein identify signaling crosstalk in T cells