We describe two patients with established antiphospholipid syndrome, who during periods of subtherapeutic anticoagulation, developed acute optic neuropathy and transverse myelopathy. Treatment with optimal anticoagulation and high dose glucocorticoids was followed by resolution of the neurologic deficits.
Screening the FUT6 gene of 40 Swedish individuals, originally selected for genotyping
of FUT3, revealed an unexpected high frequency of mutations. Four
were originally typed as homozygous for the enzyme lethal mutation G739A by
Taqal restriction pattern, but only one lacked plasma a(l,3)fucosyltransferase
activity. Cloning and sequencing of FUT6 from 2 of them revealed a new allele,
without the G739A mutation, but with two new point mutations C738T and
G977A. Segregation of this allele was confirmed in Swedish and Indonesian
families. Since G739A and C738T mutations are only one nucleotide apart and
induce the same modification of Taqal cleavage, a new screening strategy for
FUT6 was adopted. The homozygous inactivating G739A mutation was for the
first time identified in Caucasian and Polynesian individuals, both lacking plasma
enzyme activity. The mutation C370T was present in 25 of the 40 Swedish
individuals and the inactivating mutation C945A was not found at all. These
findings stress the dangers of transferring restriction enzyme genotype strategies
from one population to another and of inferring phenotypes from genotypes
without phenotyping and/or performing confirmatory cloning and sequencing.
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