Example sentences for: mfs
How can you use “mfs” in a sentence? Here are some example sentences to help you improve your vocabulary:
There was no family history of MFS, both parents were deceased.
The MFS phenotype is the result of mutations in FBN1, a large gene composed of 65 exons encoding the 350 kD fibrillin-1 protein that is the major constituent of microfibrils in the extracellular matrix (reviewed in [ 3 ] ). To date, 201 unique FBN1 mutations have been identified, including 70 (34.
Partial deletion of an 8-cysteine (LTBP-like) domain and loss of the downstream 6-cysteine calcium-binding (cb) epidermal growth factor (EGF)-like domain caused protein instability and classic MFS.
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.
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