Case#: Patient W3, 10 years old, Chinese. The patient had normal intelligence based on their performance in school.

DiseaseAssertion: MPS1-H/S

FamilyInfo: Patient received the p.M1I mutation from their mother and received the p.Y343X from their father.

CasePresentingHPOs: Short stature, coarse facial features, severe skeletal deformities (HP:0004322, HP:0000280, HP:0000924)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Expression of Y343X in COS-7 cells showed retention of a very low level of IDUA activity

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.3G>A (p.M1I)

Variant1ClinVarID: 557150

Variant1CAID: CA355945212

Variant2: c.1029C>A (p.Y343X)

Variant2ClinVarID: 222997

Variant2CAID: CA356984

AdditionalVariants: The patient has one IDUA allele with the variant c.3G>A (p.M1I) and an in frame deletion of the whole of exon 2, whereas the other allele has Y343X (an in frame deletion of nucleotides 1061-1117 in exon 8).

ParentalGenotype: Maternal - p.M1I, Paternal - p.Y343X

PreviouslyPublished N/A