Esparza-Gordillo et al., "Gain-of-function mutations
in complement factor B are associated with atypical hemolytic uremic syndrome," Proceedings of the National Acadamy of Sciences of the United States of America, vol.
"Seipinopathies," a term created to refer to specific motor neuropathies, are dominant diseases caused by gain-of-function mutations
, mostly related to nervous tissue disorders: Silver syndrome (SS) and distal hereditary motor neuropathy (dHMN) .
Diagnosis of polycythaemia is revolutionized as a gain-of-function mutation
JAK2V617F was found in more than 90% of the patients with polycythemia vera.2 Differentiation between primary and secondary polycythaemia can be done more precisely.
del Toro Duany et al., "Unusual cutaneous features associated with a heterozygous gain-of-function mutation
in IFIH1: overlap between Aicardi-Goutieres and Singleton-Merten syndromes," British Journal of Dermatology, vol.
Raabe et al., "The extended clinical phenotype of 26 patients with chronic mucocutaneous Candidiasis due to gain-of-function mutations
in STAT1," J Clin Immunol, vol.
Potential Mechanisms of Gain-of-Function Mutation
of EAGl Channels.
As for the mutations of the molecules involved in splicing machinery, it has been suggested that these mutations either induce genomic instability or abnormal splicing of specific genes (57,58) although it is not clear whether they are loss-of-function mutations or gain-of-function mutations
. Recently, it has been reported that U2AF1 mutations induces missplicing of specific genes (69) but the relationship between the missplicing of specific genes and MDS pathogenesis remains to be clarified.
One set of gain-of-function mutations
produces erythromelalgia or the "man-on-fire" syndrome in which dysfunctional Nav1.7 channels cause nociceptors to fire at the merest hint of provocation and stay provoked for an abnormal length of time (Dib-Hajj, S.D., et al., 2005).
"We discovered a gain-of-function mutation
associated with FEPS that could give rise to stereotyped episodes of severe pain affecting principally the upper body."
The low C3 values observed throughout the 6-year follow-up are consistent with continuous C3 consumption, due to the gain-of-function mutation
. Importantly, this selective continuous increased C3 activation does not seem to affect her clinical or pathophysiologic condition adversely.
Following the initial 2003 discovery of a gain-of-function mutation
in the gene PCSK9 (proprotein convertase subtilisin/kexin type 9)  associated with significantly increased LDL cholesterol, a 2005 report noted that about 2% of black individuals harbor an inactivating (premature stop) mutation in the PCSK9 gene.
[sup] A missense mutation or a more complex gain-of-function mutation
of TJP2 may be a viable and identifiable cause of ADNSHHI in human patients.