Case#: Taiwanese newborn

DiseaseAssertion: MPS-I

FamilyInfo: Probands mother and father had genetic testing conducted.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Patient had lower enzyme activities than the reference value, 9.03–69.52 µmol/L blood*20 h. Not specifically stated which value is the patient's but IDUA activity for 2 newborns were between 6.8–37.0 µmol/g protein/h.

CaseUrineGAGs: uGAG quantification results were in the normal range for all three patients (reference range; 44.6 ± 23.7 mg/mmol creatinine); however, the 2-D EP results showed unclear HS but significant DS level for two affected patients.

CaseERT: N/A

CaseBMT: N/A

Variant1: c.344G > T (D119Y). The article states that the point mutation was c.344G>T (D119Y) but it is assumed that this is a typo.

Variant1ClinVarID: 2432701

Variant1CAID: CA2801882

Variant2: c.99T>G (H33Q)

Variant2ClinVarID: 92651

Variant2CAID: CA145894

AdditionalVariants: N/A

ParentalGenotype: c.344G > T (D119Y) was inherited from the father and c.99T > G (H33Q) was inherited from the mother.

PreviouslyPublished Yes, PMID:24053568

Case#: Infant B

DiseaseAssertion: MPSI

FamilyInfo:

CasePresentingHPOs:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

CaseEnzymeAssay: Newborn screening, dried blood spot, modification of method published by Chamoles et al, IDUA activity <9.03 umol/L blood*20 on initial and repeat testing.

CaseUrineGAGs: Urinary GAG obtained as part of confirmatory testing but results are not presented.

CaseERT:

CaseBMT:

Variant1: c.344 G>T (D119Y), paternal origin

Variant1ClinVarID:

Variant1CAID:

Variant2: c.99 T>G (H33Q), maternal origin

Variant2ClinVarID:

Variant2CAID:

AdditionalVariants:

ParentalGenotype: c.344 G>T (paternal) / c.99 T>G (maternal)

PreviouslyPublished No

Case#: Functional assay variant with a clinical significance of benign.

DiseaseAssertion: MPS-I

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.99T>G (p.H33Q)

Variant1ClinVarID: 92651

Variant1CAID: CA145894

Variant2: N/A

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A