Patients with homozygous or compound heterozygous −28 (A>G) mutation may develop severe anemia or intermedia anemia (Cao and Galanello, 2010; Orkin et al., 1983).
Patients of familial hemiplegic migraine (FHM) with CACNA1A gene mutation may develop progressive cerebellar signs, and MRI revealed predominant cerebellar vermis atrophy [26] while proton MR spectroscopy (1H MRS) found reduced NAA, Glu and elevated ml in the superior cerebellar vermis indicating regionally distinct neuronal impairment [27].
Other mutations are harder to trace because individuals with these mutations may develop very different signs and symptoms, or not develop clinical abnormalities at all.
Parkinsonian features are frequently detected in patients with DOPA-responsive dystonia (Tassin et al., 2000) and family studies have shown that carriers of GCH1 mutations may develop adult-onset parkinsonism in the absence of dystonia (Nygaard et al., 1990).
We utilized the Stanford University HIV Drug Resistance Database to determine novel drug resistant mutations that may develop in PR in response to ritonavir boosted protease inhibitor therapy.
Patients with germline mutations in SDHB may develop both GIST and paraganglioma (= Carney-Stratakis syndrome) [ 42].
Although beta-thalassemia is not caused by ABCC6 mutations [ 39– 41], patients may develop an ectopic mineralization phenotype, identical to PXE, which is thus considered a PXE phenocopy [ 38, 42– 42].
As a result of this mechanism of asymmetric division, any spontaneous mutations or errors that may develop during DNA replication would occur in the newly synthesized strand and be passed along to the daughter cell, reducing the accumulation of genetic errors and, subsequently, cancer risk of the long-lived parent cell.
Based on this concept, one may develop a mutation cluster analysis tool to identify the analogous mutation clusters between cancer and germline disease mutations.
Individuals affected by type 2 or type 3 Gaucher disease, as well as some individuals who carry genetic mutations associated with Gaucher disease, may develop parkinsonism or Parkinson disease (see nervous system disease: Diseases and disorders).
Sequencing the entire mtgenome allows for a complete inventory of the point mutations in this genome that may develop in association with disease pathology and provide early detection markers [ 1].
