Case#: MPS I_Case 04, male newborn

DiseaseAssertion: MPS type I, MPS I, MPS-I, attenuated MPS I

FamilyInfo: No family information provided

CasePresentingHPOs:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText: This proband is believed to be an affected MPS-patient however, the proband did not have any obvious clinical symptoms to date (up to two years of age). The paper states that this attenuated MPS I case will need a long term follow up.

CaseEnzymeAssay: Proband identified by newborn screening. alpha-L-iduronidase activity in dried blood spot sample is 0.54 umole/L/Hr; this is below the study's DBS enzyme activity cutoff value of 3 umol/L/h

CaseUrineGAGs: Urine DMB GAG ratio, dermatan sulfate amount, heparan sulfate amount, and keratan sulfate amount was not calculated for this proband because their parents refused further analysis

CaseERT: Don't know (would assume no since the proband is a newborn)

CaseBMT: Don't know (would assume no since the proband is a newborn)

Variant1: c.1079T>G, p.F360C

Variant1ClinVarID:

Variant1CAID: CA355963276

Variant2: c.1359_1384del, p.S453Rfs*47

Variant2ClinVarID:

Variant2CAID: CA3051384105

AdditionalVariants: No additional variants mentioned

ParentalGenotype: No parental testing results are available

PreviouslyPublished No statement from the author indicating the proband is previously published. Since this is a newborn study, I strongly believe this is the proband’s first time being published.