Example sentences for: mfs
How can you use “mfs” in a sentence? Here are some example sentences to help you improve your vocabulary:
Deletion of one EGF-like domain due to exon skipping, especially in the region between exon 24 and 32, usually causes severe neonatal-onset MFS [ 8 24 25 ] . Similar deletions in other regions of fibrillin-1 may also result in early onset of cardiovascular symptoms [ 8 ] . Patient 1, described here, had a genomic deletion of exons 42 and 43 that results in an in-frame deletion of part of the 5th LTBP-like domain and the adjacent downstream cbEGF-like domain.
For example, exon-skipping mutations in the central region of the gene, exons 24-32, cause severe phenotypes or neonatal presentations [ 8 ] . But there are exceptions, only four of the many other mutations in this region cause severe phenotypes, while one mutation predicted to lead to skipping of exon 24 was found in a patient with classic MFS [ 5 ] . In contrast, most cysteine substitutions cause classic MFS with a high frequency of lens dislocation, although some patients in our study did not meet the Ghent criteria for diagnosis of MFS [ 9 ] . Amino-acid substitutions not disrupting disulfide bonds may be associated with fibrillinopathies other than MFS, although mutations in the calcium-binding consensus sequence have been reported in individuals with classic MFS [ 5 10 11 12 ] . It is clear from the studies reported so far, that genotype-phenotype correlations are not straight-forward for FBN1 mutations.
Diagnosed as a teenager, patient 1 had the skeletal and skin findings of MFS, bilateral dislocated lenses and, at the age of 46 yr, a mildly dilated aortic root.
A diagnosis of MFS was made at age 15 yr, based on bilateral lens dislocation (upward) and Marfanoid skeletal features.
There was no family history of MFS, both parents were deceased.
Loading...