In general, mutations in the USH2A gene are the most frequent cause of USH explaining up to 50% of all patients worldwide.
E200K, which results in CJD, is one of the most common worldwide prion mutations (Mead, 2006).
Worldwide variation in the distribution of BRCA1 and BRCA2 mutations is well recognised (Szabo and King, 1997).
Lung cancer is the leading cause of cancer related deaths worldwide and mutation activating KRAS is one of the most frequent mutations found in lung adenocarcinoma.
Worldwide, similar mutation-targeting vaccination efforts have been initiated for glioblastoma (GAPVAC, http://www.gapvac.eu/), paediatric acute lymphoblastic leukaemia (iVacALL), hepatocellular carcinoma (HEPAVAC, http://www.hepavac.eu/), and triple negative breast tumour (MERIT, http://merit-consortium.eu/) patients.
In a clinicopathological study, we performed on the most common GRN mutation worldwide, p.R493X, 10% of the mutation carriers received a primary clinical diagnosis of Alzheimer's disease and memory impairment was the second most common initial clinical symptom, affecting 30% of the mutation carriers (Rademakers et al., 2007).
Mutations in the MYO15A, OTOF, TMC1 and other genes have emerged as being among the more prevalent nonsyndromic hearing loss mutations, worldwide [3].
Glu200Lys (E200K) and Asp178Asn (D178N) are the most common PRNP mutations worldwide [ 2- 8].
As of now there are nearly 7000 rare diseases reported worldwide arising from mutations in either nDNA or mtDNA.
Mutations were confirmed with the INNO-LiPA CFTR17 and CFTR19 kit (Fujirebio, Europe) which provides probes for the 35 most frequent CFTR-related mutations worldwide or by Sanger sequencing.
