Hoffman et al. demonstrated that serum IL-1 levels in FCAS patients with NLRP3 mutations were normal; however, extensive amounts of IL-1 protein and IL-1 mRNA were found in the affected skin [ 16].
The tissue mtDNA content of patients who had two linker mutations was normal, and their phenotypes the mildest.
Mice heterozygous for the hpmKIlox mutation (hpmKIlox/+) were normal.
Lastly, a recent report documented that, in four classical RTT patients harbouring mutations in exon 1, there were normal levels of MeCP2_e2 mRNA.
The gastric mucosa in CDH1 germline mutation carriers is normal until the second CDH1 allele is inactivated.
Moreover, many mutations may be normal polymorphisms without pathological significance.
If the fetus inherits the mutation, birth weight is normal when maternal hyperglycemia is not treated, whereas intensive treatment may adversely reduce fetal growth.
Alternative splicing of MLH1 occurs in a range of normal tissues [ 24], but several pieces of evidence indicate that the transcripts observed in our study are caused by the mutation, rather than being normal splicing events.
When both the mother and fetus share the MODY 2 mutation, birth weight is normal, providing the mother's hyperglycemia is not treated, as the glucose threshold to trigger insulin secretion is similar in the mother and fetus, and fetal insulin levels remain normal.
While this leukodystrophy results in demyelination, GPs cultured with this mutation were able to produce normal OLs in culture.
