The whirler mutation is characterised by shortened stereocilia, identifying a key function for the PDZ protein, whirlin, in stereocilia growth and actin polymerisation.
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.
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.
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).
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.
Birt Hogg Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer.
We firstly validated the DMD-CGH array both on ten normal control males and on four patients (1, 2, 3 and 4) with mutations previously characterised by MLPA.
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).
Both NBS1 and BRCA2 genes act in DNA damage repair signalling pathway, and mutations in the two genes (in homozygous state) cause inherited recessive clinical syndromes, such as NBS (NBS1 mutation), Fanconi anaemia (BRCA2 mutation), which are characterised by spontaneous chromosomal instability, immunodeficiency and a predisposition to cancer (Digweed, 1993; Varon et al, 1998; Howlett et al, 2002).
