M1
Case#: Patient M1, Muslim religious group, located in lower Galilee.
DiseaseAssertion: MPS1-H
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.192C>A (p.Y64X)
Variant1ClinVarID: 11914
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
D1
Case#: Patient D1, Druze religious group, located in lower Galilee.
DiseaseAssertion: MPS1-H
FamilyInfo: Both parents, as well as an aunt and uncle who had a deceased affected child, were heterozygous for the same mutation.
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.192C>A (p.Y64X)
Variant1ClinVarID: 11914
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
Case#: Patient 2, Turkish
DiseaseAssertion: MPS1-H
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.192C>A (p.Y64X)
Variant1ClinVarID: 11914
Variant1CAID: CA256113
Variant2: c.979G>C (p.A327P); Table states c.1067G>C instead of c.979G>C. This variant is not in ClinVar or has a CAID. Assuming there is a typo and this is c.979G>C
Variant2ClinVarID: 167190
Variant2CAID: CA234128
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
2
Case#: Patient No. 2 (Table 1), Arabic Druze ethnic group, male, 1.15 years old (age at time of gene therapy), 100 IQ score, 2.40 years since gene therapy, 2 years since latest visit
DiseaseAssertion: MPS-IH
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: Yes
Variant1: c.192C>A (p.Y64X)
Variant1ClinVarID: 11914
Variant1CAID: CA256113
Variant2: c.192C>A (p.Y64X)
Variant2ClinVarID: 11914
Variant2CAID: CA256113
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A