c.41T > G
Case#: No additional case information provided
DiseaseAssertion: MPSI-H
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: Not detectable
CaseUrineGAGs: N/A
CaseERT: N/A
CaseBMT: N/A
Variant1: c.41T>G (p.L14R)
Variant1ClinVarID: N/A
Variant1CAID: CA355945322
Variant2: c.386-2A>G
Variant2ClinVarID: 222994
Variant2CAID: CA356991
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
6
Case#: Patient 6 (see Table 2), male, 16.7 years old (age at report), 10.4 years (duration of treatment), 4 surgeries
DiseaseAssertion: MPS1-HS
FamilyInfo: N/A
CasePresentingHPOs: HP:0002360 (Sleep abnormality)
CaseHPOFreeText: Psychiatric problems
CaseNotHPOs: HP:0000238, HP:0002176 (Hydrocephalus, spinal cord compression)
CaseNotHPOFreeText: Shunt placement
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: Yes
CaseBMT: N/A
Variant1: c.712T>A (p.L238Q) CDNA and protein change do not match. Known variant p.L238Q has a CDNA change of c.713T>A.
Variant1ClinVarID: 265418
Variant1CAID: CA2802065
Variant2: (Int3-2a>g) Current HGVS nomenclature is c.386-2A>G.
Variant2ClinVarID: 222994
Variant2CAID: CA356991
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
294
Case#: Patient 29 (see Table 2), 40 weeks, 5 days (Gestational age)
DiseaseAssertion: MPS1-S
FamilyInfo: Sibling of Patient 28 (see Table 2)
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: Inguinal hernia (HP:0000023)
CaseNotHPOFreeText: Upper respiratory tract involvement
CaseEnzymeAssay: 1.61 nmol x mg-1 × hr-1
CaseUrineGAGs: N/A
CaseERT: N/A
CaseBMT: N/A
Variant1: c.474-2A>G (new nomenclature: c.386-2A>G)
Variant1ClinVarID: 222994
Variant1CAID: CA356991
Variant2: c.1148G>A (p.R383H)
Variant2ClinVarID: 558189
Variant2CAID: CA:2802205
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
284
Case#: Patient 28 (see Table 2), 40 weeks, 5 days (Gestational age)
DiseaseAssertion: MPS1-S
FamilyInfo: Sibling of Patient 29 (see Table 2)
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: Inguinal hernia (HP:0000023)
CaseNotHPOFreeText: Upper respiratory tract involvement
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: N/A
CaseBMT: N/A
Variant1: c.474-2A>G (new nomenclature:c.386-2A>G)
Variant1ClinVarID: 222994
Variant1CAID: CA356991
Variant2: c.1148G>A (p.R383H)
Variant2ClinVarID: 558189
Variant2CAID: CA:2802205
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
30
Case#: Patient 30 (see Table 2), 40 weeks (Gestational age)
DiseaseAssertion: MPS1-S
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: Inguinal hernia (HP:0000023)
CaseNotHPOFreeText: Upper respiratory tract involvement
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: N/A
CaseBMT: N/A
Variant1: c.474-2A>G (new nomenclature: c.386-2A>G)
Variant1ClinVarID: 222994
Variant1CAID: CA356991
Variant2: c.1148G>A (p.R383H)
Variant2ClinVarID: 558189
Variant2CAID: CA:2802205
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
474-2a>g
Case#: Family 12, UK
DiseaseAssertion: MPS1-H/S
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
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.386-2A>G; c.474-2A>G in the paper
Variant1ClinVarID: 222994
Variant1CAID: CA356991
Variant2: c.46_57del (p.Ser16_Ala19del); in the paper it is listed as c.134del12 (old nomenclature)
Variant2ClinVarID: 92643
Variant2CAID: CA220509
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
474-2a>g
Case#: Family 13, UK
DiseaseAssertion: MPS1-H
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: The paper states that "Hurler form is characterized by skeletal abnormalities, hepatosplenomegaly and severe mental retardation" but is 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.386-2A>G; c.474-2A>G in the paper
Variant1ClinVarID: 222994
Variant1CAID: CA356991
Variant2: c.1855C>T (p.R619X)
Variant2ClinVarID: 280976
Variant2CAID: CA2802455
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
16
Case#: Patient 16, born in 2004 (paper published in 2017), 15 months (age at first treatment)
DiseaseAssertion: MPSI-H
FamilyInfo: N/A
CasePresentingHPOs: Corneal clouding (HP:0007957)
CaseHPOFreeText: N/A
CaseNotHPOs: Retinopathy, cataract (HP:0000488, HP:0000518)
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: 52.1 ng/mol (26 weight matched enzyme reference assay)
CaseUrineGAGs: 0.22 DS/CS
CaseERT: Yes
CaseBMT: Yes, Cord
Variant1: c.386-2A>G
Variant1ClinVarID: 222994
Variant1CAID: CA356991
Variant2: c.41T>G (p.L14R)
Variant2ClinVarID: N/A
Variant2CAID: CA355945322
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
7
Case#: Patient 7, born in 2005 (paper published in 2017), 16 months (age at first treatment)
DiseaseAssertion: MPSI-H
FamilyInfo: N/A
CasePresentingHPOs: Corneal clouding (HP:0007957)
CaseHPOFreeText: N/A
CaseNotHPOs: Retinopathy, cataract (HP:0000488, HP:0000518)
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: 62.57 ng/mol (34.3 weight matched enzyme reference assay)
CaseUrineGAGs: 0.59 DS/CS
CaseERT: No
CaseBMT: Yes, Cord
Variant1: c.1205G>A (p.W402X)
Variant1ClinVarID: 11908
Variant1CAID: CA220498
Variant2: c.386-2A>G
Variant2ClinVarID: 222994
Variant2CAID: CA356991
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A