KH5 Hurler 5 Insertion 6 CTGCT 704ins5
Proband KH5 was 5yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with p.Y618X
14 Matching Annotations
- Oct 2026
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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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)
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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)
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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)
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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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 5, female, 1y at clinical dx, 20y at enzymatic dx, 31y at death
DiseaseAssertion: Hurler/Scheie
FamilyInfo: n/a
CasePresentingHPOs: HP:0002240
CaseHPOFreeText: height=117cm at 21yo. cardiac involvement. CHF caused death
CaseNotHPOs:
CaseNotHPOFreeText: mental delay
PreviouslyPublished: n/a
Variant: 704ins5; R89Q
ClinVar: 11921; 11922
CAID: CA256123; CA256124
SupplementalData: n/a
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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
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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
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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
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www.gimjournal.org www.gimjournal.org
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While genes with established links to skeletal dysplasia accounted for the majority of cases (91%) (Supplementary Figure S2, Table S1 online), our analysis revealed potential confirmation of previously reported candidates. Specifically, C3orf17 (NEPRO) was previously proposed by us as a novel candidate gene in an autosomal recessive Larsen-like phenotype.13.Shaheen R. Patel N. Shamseldin H. et al.Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.10.1038/gim.2015.147Genet Med. 2015; 18: 686-695Google Scholar In addition to the previously published family, we were able to identify a second family (15DG2238 and 15DG2239) with an identical phenotype of facial dysmorphism (midfacial hypoplasia, depressed nasal bridge, frontal bossing, wide anterior fontanel), chest narrowing with pectus excavatum, and acromelia (see Figure 2 and Supplementary Table S2 online) in whom we identified the same homozygous variant (haplotype analysis confirmed the founder nature of the variant).
Case#: Case 12DG1568, female, Arab, 18mo
DiseaseAssertion: MPS Ih
FamilyInfo: Parents are a second-degree consanguineous couple with three other healthy children, and they had a son who died at 12 years of age and a cousin with a similar phenotype
CasePresentingHPOs: HP:0000280, HP:0100876, HP:0005280, HP:0000463, HP:0000256, HP:0001433
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
PreviouslyPublished: n/a
Variant: NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) homozygous
ClinVar: 11921
CAID: CA256123
SupplementalData: genotype and phenotype in Table S1, S6
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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c.704ins5
This variant is mentioned, but only as a common Japanese variant when comparing common Chinese variants to other populations.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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9Hc.704ins5 (p.W235Cfs*84)c.1037T>G (p.L346R)Ref#610Hc.704ins5 (p.W235Cfs*84)c.1854C>A (p.Y618*)Ref#611Hc.704ins5 (p.W235Cfs*84)c.1037T>G (p.L346R)Ref#612Hc.704ins5 (p.W235Cfs*84)c.1037T>G (p.L346R)Ref#6
Cases were previously reported in PMID: 15521993.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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704ins5, C.613_617dupTGCTC
Important finding that these two variants are actually the same, just different nomenclature over time
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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2 Hurler 1OM F 704ins5/704ins5 (+) 70 (1Y) (--I (-) aliv
Case#: Yamagishi Case 2, female, 10mo, Japanese
DiseaseAssertion: MPS1-Hurler
FamilyInfo: n/a
CasePresentingHPOs:
CaseHPOFreeText: mental delay, height -1.5SD
CaseNotHPOs:
CaseNotHPOFreeText: cardiac involvement
PreviouslyPublished: n/a
Variant: 704ins5 homozygous
ClinVar: 11921
CAID: CA256123
SupplementalData: n/a
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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
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