Nine point mutations (c.3G>A, p.M1?; c.79G>A, p.E27K; c.113G>A, p.R38Q; c.119G>T, p.G40V; c.184A>G, p.N62D; c.320G>A, p.R107Q; c.331G>C, p.E111Q; c.394A>G, p. I132V; and c.422G>A, p. S141N) in the SSBP1gene located at 7q34 and associated with human disease in 78 patients across 16 families. Two of the mutations (c.113G>A and c.320G>A) were found in multiple patients from several distinct families, while most of the others were found in a single family and often a single patient. All but one were reported to be autosomal dominant.
SSBP1