Conclusion
In summary, this study presents the genetic profiling of the largest
cohort of Iranian MPS patients consisting of 289 unrelated families. Our
comprehensive diagnostic approach was able to molecularly characterize
258 patients harboring putatively causal variants in 8 MPS genes, in
addition to identification of five non-MPS IEM patients. Notably, 87.2%
of the diagnosed patients were homozygous, besides a high proportion of
consanguineous marriages among this cohort (83%). MPS IV was the most
common type in this study followed by MPS I and MPS VI, contrary to
previous reports where MPS VI contributed to a considerably low
proportion of the patients. Furthermore, we identified a region-specific
pattern for several predominant pathogenic variants (eg. ARSB :
c.430G>A, c.962C>T and GALNS :
c.319G>A) which provides insight into genetic epidemiology
of MPS and can facilitate a more cost-effective, time-efficient
diagnostic approach.