Regardless, the mutation was reported to be responsible for severe clinical expression in the patient [ 41].
Loss of heterozygosity on human chromosome 17p, 53 point mutations, and altered p53 expression were reported in astrocytomas (Scheffner et al, 1990; Werness et al, 1990; Fujimaki et al, 1991; Lowe and Ruley, 1993; Chozick et al, 1994a; Iuzzolino et al, 1994; Slebos et al, 1994; Morita et al, 1996; Sarkar et al, 2002).
The relationship between gene expression levels and mutation prevalence, previously reported in a malignant melanoma and a small cell lung cancer (Pleasance et al., 2010a; Pleasance et al., 2010b), has been extended here to primary breast cancers.
A single atypical isolate that had a mutation reported to affect CPS expression produced a false-negative result, and a single B. thailandensis isolate that had the CPS biosynthetic operon and expresses capsule produced a false-positive result (20, 60, 61 ).
Few cases of glioblastoma in BRCA1 mutation carriers were reported but the BRCA1 expression status has never been studied.
Our approach is shown to sensitively capture mutations that change pathway level mRNA expression, concurrently discovering important mutations previously reported in breast cancer such as TP53, PIK3CA, and RB1.
In fact, in addition to WNK1 and WNK4, whose mutations cause PHAII, WNK3 mRNA expression was reported to be present in the kidney (Holden et al., 2004).
Constitutive activation of mTORC1 causes enlarged neuronal somata in rodent neurons, and focal cortical expression of MTOR mutations has been reported to disrupt neuronal migration and to cause spontaneous seizures by in utero electroporation in mice40, 41, 53.
XDR-TB, an even more extreme and deadly mutation, has been reported in 92 countries.
These results are also consistent with the fact that patient mutations are reported in loops 1 3, but not loop 4. To test if endogenous hBest1 mutations in the mapped ATP-binding motif impair channel ATP-dependence, we examined Cl− current in iPSC-RPE derived from the skin fibroblasts of a patient donor carrying an hBest1 I201T mutation, which does not affect the overall hBest1 expression level16.
