NPM1 mutations are characterised by four basepair insertions within the region corresponding to the C-terminus of the protein leading to its translocation out of the nucleus.
Somatic tumours harbouring some oncogenic mutations are characterised by a high mortality rate.
It has been shown that BRCA2 mutations are characterised by a lower level of penetrance than in BRCA1 mutation carriers (Boyd, 1996; Levy-Lahad et al, 1997).
About 50% of all skin cancers exhibit TP53 mutations [ 17], and these mutations are characterised by a specific signature attributed to the UVB part of the solar spectrum.
Tumours derived from SDH or FH mutations are characterised by a strong hypoxic signature and are significantly more vascularised (Dahia et al, 2005; Vanharanta et al, 2006; Favier et al, 2012).
The whirler mutation is characterised by shortened stereocilia, identifying a key function for the PDZ protein, whirlin, in stereocilia growth and actin polymerisation.
This mutation was characterised as BRCA1 4362delG and is reported in the "Other BRCA1 mutation" row in Table 1.
Our finding that FTD caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology now provides evidence that endolysosomal dysfunction is major pathway in the aetiology of FTD.
The affected subjects show no haematological or biochemical abnormalities and the phenotype of this mutation is characterised only by an accumulation of L-ferritin in the lens, resulting in cataract, although a direct relationship between the mutation and the lens deposit of aggregated and crystallised ferritin has not been formally demonstrated.
