Among 31 different mutations identified in IDUA, nine were nonsense mutations and two were gross deletions while the remaining were missense mutations.
See Page Note for a list of identified IDUA mutations- copied from the article. Since mutations are not linked to specific patients, there is insufficient evidence for the variant.
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses
This article is not publicly available. I was able to obtain institutional access to the full text, but am annotating the PubMed abstract so the details are available to everyone.
PMID:30903511
Gene: IDUA (and others)
Disease: MPS1 (and others)
Inheritance: Autosomal recessive
Eighty-nine patients (62 males and 27 females) were diagnosed with different types of MPS type I (n=28), II (n=17), III (n=23), IV (n=12), VI (n=6), and VII (n=3) with an age range: 0.1–25.4 (5.6±4.4) years formed an experimental group.
Among IDUA mutations, c.1469T>C was the most common followed by c.784delC, c.532G > A, c.908T > C, c.1759C>T. Out of the 31 different mutations identified in IDUA, 9 were non-sense mutation resulting in premature termination, which contribute to 32.3% cases, i.e., c.436A.T (p.K146), c.606C>G (p.Y202), c.895 G>T (p.E299), c.1029C> A (p.Y343), c.1750C>T (p.Q584), c.1759 C > T(p.Q587), c.1855C > T (p.R619), c.1861C > T (p.R621), c. 1882 C>T (p.R628*). Two gross deletions were also reported, i.e., ex8_ex14del and ex9_ex14del.