But only now are they documenting the mutations that allow this evolution to happen in the first place.
The diagnosis was confirmed by the reduced plasma a-galactosidase A (0,32 nmol/h/ml), decreased activity assayed in leucocytes [0,65 nmol/mg.prot/h (normal range: 26-80)] and the molecular analysis of GLA gene documented the hemizygous missense mutation g.5234G>A 2 in the exon 2 that changes in the protein Arg with Hys (p.R112H).
Although mutations associated with OSCC have been well documented, the rate of these mutations is known to vary by location.
However, in support of our finding, our group and others have documented the occurrence of Tp53 mutations in ∼30% of localized human CaP (Chi et al., 1994; Heidenberg et al., 1995; Hughes et al., 1995; Bauer et al., 1996; Moul et al., 1996; Prendergast et al., 1996; Byrne et al., 1997; Meyers et al., 1998; Schlechte et al., 1998; Shi et al., 2002; Downing et al., 2003).
Our case is of great clinical interest, as it documents the interest of mutation screening when sonography during pregnancy reveals findings suggestive of a skeletal dysplasia, especially when the karyotype does not explain the abnormal sonographic findings.
Our results suggest a role for PHD2/3 in addition to the well documented VHL mutations in the constitutive expression of HIF-α in ccRCC.
A recent report documents the mutation of AKT3 in some melanoma samples [ 143].
The polyexocrinopathy genetic disease CF is caused by one of the 2000 documented mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR, OMIM # 602421) among them the deletion F508 (F508del-CFTR) is the most common and severe CF mutation (Boyle and De Boeck, 2013, Riordan, 2008).
The documented mutations of PIK3CA were mostly missense mutations and clustered in two lesions consisting of three hotspots (E542K, E545K, and H1047) [ 2, 10, 13- 15].
A survey of the COSMIC database (Forbes et al., 2011), as of the time of writing, revealed 41 documented missense mutations within the H2A NTD with 29 (71%) affecting a residue within one of the four arginine motifs.
