Case#: Severe MPS1 patients, 2 individuals with this genotype

DiseaseAssertion: Severe MPS I

FamilyInfo: n/a, "neither the laboratory method used to determine the sequence variants nor whether parental testing confirmed the inheritance or phase of the variants is captured by the Registry"

CasePresentingHPOs:

CaseHPOFreeText: "All patients enrolled in the Registry have confirmation of MPS I diagnosis by either mutation analysis or measurement of IDUA levels."

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: n/a

GenotypingMethod: n/a

PreviouslyPublished: possible since this is a multinational registry

Variant: c.1403‐1G > T/Q400X

ClinVar: 1683229

CAID: CA355963534

SupplementalData: n/a

article is a PDF, so annotating here.

Case#: Beesley Family 30, UK

DiseaseAssertion: MPS1, Scheie

FamilyInfo: Family 30, no parental material available to confirm phase

CasePresentingHPOs:

CaseHPOFreeText: reduced/absent enzyme activity. IDUA enzyme activity in leukocytes= range from 0 to 2.47 nmol/h/mg protein (reference range: 28–92 nmol/h/mg protein) for the 85 patients in study, but no individual activity provided. No individual phenotype information given. Scheie described as milder with "aortic valve disease, corneal clouding, limited skeletal problems, but no mental retardation."

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: n/a

GenotypingMethod: intron/exon boundaries of the IDUA gene were analysed by PCR, SSCP and DNA sequencing

PreviouslyPublished: n/a

Variant: compound het: 678–7g>a; Q400X

ClinVar: 1683229

CAID: CA355963534

SupplementalData: n/a

Case#: Family 30, UK

DiseaseAssertion: MPS1-S

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: The Scheie phenotype is characterized by aortic valve disease, corneal clouding, limited skeletal problems, but no mental retardation. This is a general assessment and not specific to this patient.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: The α-L-iduronidase enzyme activities in leucocytes from all patients in the study was measured using the artificial substrate 4-methylumbelliferyl α-L iduronide (Sigma). Values ranged from 0 to 2.47 nmol/h/mg protein (reference range: 28–92 nmol/h/mg protein) and did not correlate to the clinical phenotype.

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.590-7G>A; c.678-7G>A in the paper (old nomenclature)

Variant1ClinVarID: 222996

Variant1CAID: CA356990

Variant2: c.1198C>T (p.Q400X)

Variant2ClinVarID: 1683229

Variant2CAID: CA355963534

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Hein Proband, Australian

DiseaseAssertion: MPS I, Hurler

FamilyInfo:

CasePresentingHPOs:

CaseHPOFreeText: no detectable α-l-iduronidase activity in skin fibroblast extracts without treatment, "These MPS I patients all had symptoms typical of classical Hurler syndrome."

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: DNA sequence analysis, ABI PRISM® dGTP BigDye™ Terminator v3.0 Ready Reaction Cycle Sequencing Kit

PreviouslyPublished: n/a

Variant: Q400X/IVS9-1g→t

ClinVar: 1683229

CAID: CA355963534

SupplementalData: n/a