Case#: Patient 43, 2 years old (age at report), male, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, intellectual disability, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0001249, HP:0100790)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 2.2% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1862C>T (p.Arg621Leu) - There seems to be a typo, either c.1862G>T (p.Arg621Leu) or c.1861C>T (p.Arg621Ter). Unknown which variant is being referred.

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: c.1862C>T (p.Arg621Leu) - There seems to be a typo, either c.1862G>T (p.Arg621Leu) or c.1861C>T (p.Arg621Ter). Unknown which variant is being referred.

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 48, 6 years old (age at report), male, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Hepatosplenomegaly, joint contractures, corneal clouding, recurrent infections (HP:0001433, HP:0002828, HP:0007957, HP:0002719)

CaseHPOFreeText: Cardiac disease

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 2.7% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.(972+1_973-1)(1959?)del in the paper, unsure how to write this in current nomenclature.

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: c.(972+1_973-1)(1959?)del in the paper, unsure how to write this in current nomenclature.

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 49, 2 years old (age at report), male, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, recurrent infections, dysostosis multiplex, hernia (HP:0000280, HP:0001433, HP:0002719, HP:0000943, HP:0100790)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 2.7% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.(1189+1)(1190–1)(1959_?)del in the paper, unsure how to write this in current nomenclature.

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: c.(1189+1_1190-1)(2003?)del in the paper, unsure how to write this in current nomenclature.

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 47, 2 years old (age at report), female, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 1.8% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.(792+1_793-1)_(972+1_973-1)del in the paper, unsure how to write this in current nomenclature.

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: c.(792+1_793-1)_(972+1_973-1)del in the paper, unsure how to write this in current nomenclature.

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 56, 4 years old (age at report), female, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, joint contractures (HP:0000280, HP:0002828)

CaseHPOFreeText: Cardiac disease

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 2.2% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.589G>A (p.Gly197Ser)

Variant1ClinVarID: 1526094

Variant1CAID: CA355961839

Variant2: c.1026G>A (p.Trp402Ter) in the article but this is not a valid variant. Could possible be c.1205G>A (p.Trp402Ter)

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 52, 2 years old (age at report), male, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, corneal clouding, recurrent infections (HP:0000280, HP:0001433, HP:0007957, HP:0002719)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 2.4% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.395C>T (p.Leu132Pro) in the article - incorrect variant. Possible correct nomenclature is c.395T>C (p.Leu132Pro) or c.394C>T (p.Leu132=)

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: c.1839delT (p.Val614Serfs*7)

Variant2ClinVarID: N/A

Variant2CAID: CA2586965995

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 51, 2 years old (age at report), female, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, dysostosis multiplex (HP:0000280, HP:0001433, HP:0002828, HP:0000943)

CaseHPOFreeText: Cardiac disease

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 2.4% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.265G>C in the article - incorrect variant but unknown what the correct nomenclature is. Could be c.265C>G (p.Arg89Gly) or c.266G>C (p.Arg89Pro)

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: c.779C>T (p.Ser260Phe)

Variant2ClinVarID: 3895951

Variant2CAID: CA355962251

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Nabavi, N., & Dobson, J. (2021, April 21). Covid-19 new variants—known unknowns. The BMJ Opinion. https://blogs.bmj.com/bmj/2021/04/21/covid-19-new-variants-known-unknowns/?utm_campaign=shareaholic&utm_medium=twitter&utm_source=socialnetwork