Case#: Patient 10, 10 years old, Iranian

DiseaseAssertion: MPS1-S (Attenuated)

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0.45 µmol/g.h (Normal ranges: 10-50 µmol/g.h)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.152G>A (p.G51D)

Variant1ClinVarID: 193061

Variant1CAID: CA274902

Variant2: Unknown

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

TissueExpression/Uberon ID: UBERON:0002113, UBERON:0000955, UBERON:0001987, UBERON:0002108, UBERON:0002048

ExpressionEvidence: Northern Blot analysis showed ubiquitous expression of COH1 transcripts in all tissues analyzed.

Relative quantification and PCR-based fragment analysis revealed expression of the splicing variant (NM_152564.3 utilizing exon 28b) in most human tissues. Almost equal expression of both full-length transcript (NM_017890.3 utilizing exon 28) and splice variant was found for fetal and adult brain as well as adult retina.

Where in paper: Results, under "COH1 is differentially spliced in human brain"

TissueExpression/Uberon ID: UBERON:0002113, UBERON:0000955, UBERON:0001987, UBERON:0002108, UBERON:0002048

ExpressionEvidence: Northern Blot analysis showed ubiquitous expression of COH1 transcripts in all tissues analyzed.

Relative quantification and PCR-based fragment analysis revealed expression of the splicing variant (NM_152564.3 utilizing exon 28b) in most human tissues. Almost equal expression of both full-length transcript (NM_017890.3 utilizing exon 28) and splice variant was found for fetal and adult brain as well as adult retina.

Where in paper: Results, under "COH1 is differentially spliced in human brain"