One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population.
annotating here since this is a PDF
Case#: Yamagishi Case 2, female, 10m at dx
DiseaseAssertion: Hurler
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText: mental delay. height=70cm
CaseNotHPOs: HP:0002240
CaseNotHPOFreeText: cardiac involvement
PreviouslyPublished: n/a
Variant: 704ins5/704ins homozygous
ClinVar: 11921
CAID: CA256123
SupplementalData: n/a
One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population.
annotating here since this is a PDF
Case#: Yamagishi Case 3, female, 3y4m at dx
DiseaseAssertion: Hurler/Scheie
FamilyInfo: Case 4 is this patient's sibling. Same genotype and similar phenotype
CasePresentingHPOs: HP:0001433
CaseHPOFreeText: height=90cm (-1.2SD)
CaseNotHPOs:
CaseNotHPOFreeText: mental delay. cardiac involvement
PreviouslyPublished: n/a
Variant: 704ins5; R89Q
ClinVar: 11921; 11922
CAID: CA256123; CA256124
SupplementalData: n/a
One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population.
annotating here since this is a PDF
Case#: Yamagishi Case 1, female, 3y1m at dx
DiseaseAssertion: Hurler
FamilyInfo: consanguinity
CasePresentingHPOs: HP:0002240
CaseHPOFreeText: mental delay. height=89cm (-1.5SD)
CaseNotHPOs:
CaseNotHPOFreeText: cardiac involvement
PreviouslyPublished: n/a
Variant: 704ins5/704ins homozygous
ClinVar: 11921
CAID: CA256123
SupplementalData: n/a
One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population.
annotating here since this is a PDF
Case#: Yamagishi Case 2, female, 10m at dx
DiseaseAssertion: Hurler
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText: mental delay. height=70cm
CaseNotHPOs: HP:0002240
CaseNotHPOFreeText: cardiac involvement
PreviouslyPublished: n/a
Variant: 704ins5/704ins homozygous
ClinVar: 11921
CAID: CA256123
SupplementalData: n/a
One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population.
annotating here since this is a PDF
Case#: Yamagishi Case 3, female, 3y4m at dx
DiseaseAssertion: Hurler/Scheie
FamilyInfo: Case 4 is this patient's sibling. Same genotype and similar phenotype
CasePresentingHPOs: HP:0001433
CaseHPOFreeText: height=90cm (-1.2SD)
CaseNotHPOs:
CaseNotHPOFreeText: mental delay. cardiac involvement
PreviouslyPublished: n/a
Variant: 704ins5; R89Q
ClinVar: 11921; 11922
CAID: CA256123; CA256124
SupplementalData: n/a
One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population.
annotating here since this is a PDF
Case#: Yamagishi Case 1, female, 3y1m at dx
DiseaseAssertion: Hurler
FamilyInfo: consanguinity
CasePresentingHPOs: HP:0002240
CaseHPOFreeText: mental delay. height=89cm (-1.5SD)
CaseNotHPOs:
CaseNotHPOFreeText: cardiac involvement
PreviouslyPublished: n/a
Variant: 704ins5/704ins homozygous
ClinVar: 11921
CAID: CA256123
SupplementalData: n/a
KH8 Hurler 20 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH8 was 20yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
KH9 Hurler 11 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH9 was 11yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
KH4 Hurler 6 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH4 was 6yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
KH8 Hurler 20 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH8 was 20yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
KH9 Hurler 11 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH9 was 11yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
KH4 Hurler 6 Insertion 6 CTGCT 704ins5 Missense 8 CTG⇆CGG L346R
Proband KH4 was 6yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with 704ins5 (CTGCT)
1 Hurler 3Y1M F (+) 704ins5/704ins5 (+) 89 (3YlM) hepatoinegaly (-) unknown
Case#: Yamagishi Case 1, female, 3yo1mo, Japanese
DiseaseAssertion: MPS1-Hurler
FamilyInfo: consanguinity
CasePresentingHPOs: HP:0001510, HP:0002240
CaseHPOFreeText: mental delay, height -1.5SD
CaseNotHPOs:
CaseNotHPOFreeText: cardiac involvement
PreviouslyPublished: n/a
Variant: 704ins5 homozygous
ClinVar: 11921
CAID: CA256123
SupplementalData: n/a
1 Hurler 3Y1M F (+) 704ins5/704ins5 (+) 89 (3YlM) hepatoinegaly (-) unknown
Case#: Yamagishi Case 1, female, 3yo1mo, Japanese
DiseaseAssertion: MPS1-Hurler
FamilyInfo: consanguinity
CasePresentingHPOs: HP:0001510, HP:0002240
CaseHPOFreeText: mental delay, height -1.5SD
CaseNotHPOs:
CaseNotHPOFreeText: cardiac involvement
PreviouslyPublished: n/a
Variant: 704ins5 homozygous
ClinVar: 11921
CAID: CA256123
SupplementalData: n/a