Case#: Unlabeled Patient

DiseaseAssertion: MPS 1

FamilyInfo: n/a

CasePresentingHPOs: n/a

CaseHPOFreeText: n/a

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: All coding exons of IDUA plus at least 25 base-pairs of flanking intronic sequence were amplified by polymerase chain reaction (PCR). PCR fragments were sequenced using a standard protocol and run on an Applied Biosystems DNA analyzer (3100, 3130, or 3730xl).

PreviouslyPublished: no

Variant: NM_000203.3 c.399G>C (p.M133I), c.606C>A (p.Y202X) and c.208C>T (p.Q70X) phase unknown

CAID: CA355961907

SupplementalData: n/a

This paper was listed under the ClinVar entry for this variant; however, only as an example to prove loss-of-function variants in IDUA are known to be pathogenic

1 individual from "other regions" was reported to have this variant in a cohort of 291 people with MPS1.

CAID: CA355961907

Genotype: NM_000203.3 c.606C>A p.(Tyr202Ter)

HPOFreeText: Phenotype: unknown

GenotypingMethod: bidirectional Sanger sequencing of the IDUA gene. IDUA exons and adjacent intron regions were amplified by PCR reactions and then sequenced

SupplementalInfo: Supplemental table S1

Mentioned that this variant has been seen in a previous publication: Matte (2003), but it doesn't sound like it's the same individual

Case#: Patient 2, female, German, 1.5yo at HSCT, 3.5yo at report

DiseaseAssertion: MPS I, Hurler

FamilyInfo: n/a

CasePresentingHPOs:

CaseHPOFreeText: diagnosis of MPS I confirmed by enzyme activity determination and/or genetic testing, Hurler phenotype, hematopoietic stem cell transplantation (HSCT) and a minimum of two orthopedic evaluations. enzyme replacement therapy (ERT) prior to HSCT. severely limited shoulder abduction (deficit ≥90°), mild flexion joint contractures of elbows, hips and knees (5–15°). normal odontoid process and increased soft tissue mass surrounding the odontoid. Flattened and beaked vertebrae and paddle shaped ribs.

CaseNotHPOs:

CaseNotHPOFreeText: thoracolumbar kyphosis was absent at an average age of 1.6 years

GenotypingMethod: n/a

PreviouslyPublished: n/a

Variant: c.606C > A p.Y202X; c.979G > C p.A327P

CAID: CA355961907

SupplementalData: n/a