Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family
Article not publicly available through PubMed.
PMID: 30511553
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
three cases
Case#: 2 (16 y, male - brother of Case 1, symptom onset/pain+movement limitation 8 y, diagnosis 16y)
DiseaseAssertion: Scheie syndrome
FamilyInfo: Male patient born to consanguineous parents
CasePresentingHPOs: 0034337
CaseHPOFreeText: claw hands with flexion contractures; electroneurology showed bilateral signs of mild median nerve suffering.
CaseNotHPOs: HP:0000280; HP:0001510; HP:0000943
CaseNotHPOFreeText: no coarse face, growth failure, other joint involvement, evidence of dysostosis multiplex of other bones. Normal intelligence, ophthalmologic, hearing and echocardiography, brain MRI
CaseEnzymeAssay: 0.64 (umol/g/h)
CaseUrineGAGs:
CaseERT: Yes, after diagnosis at 16y CaseBMT:
Variant1:c.1189+4A>T
Variant1ClinVarID:
Variant1CAID: CA2586965965
Variant2: 1189+4A>T
Variant2ClinVarID:
Variant2CAID: CA2586965965
AdditionalVariants:
ParentalGenotype:
PreviouslyPublished
19 years)
Case#: 3 (19 y, male - cousin of Cases 1 and 2, symptom onset/pain+movement limittion 12y, diagnosis 19y))
DiseaseAssertion: Scheie syndrome
FamilyInfo: Male patient born to consanguineous parents
CasePresentingHPOs:
CaseHPOFreeText: electroneurology showed bilateral signs of mild median nerve suffering.
CaseNotHPOs: 0034337;HP:0001510; HP:0000943
CaseNotHPOFreeText: no coarse face, growth failure, other joint involvement, evidence of dysostosis multiplex of other bones. Normal intelligence, ophthalmologic, hearing and echocardiography, brain MRI
CaseEnzymeAssay: 0.57 (umol/g/h)
CaseUrineGAGs:
CaseERT: Yes, after diagnosis at 19y
CaseBMT:
Variant1:c.1189+4A>T
Variant1ClinVarID:
Variant1CAID: CA2586965965
Variant2: 1189+4A>T
Variant2ClinVarID:
Variant2CAID: CA2586965965
AdditionalVariants:
ParentalGenotype:
PreviouslyPublished
Three cases from the same family.
Case#: 1 (18 y, female, symptom onset/pain+movement limitation 10y, carpal tunnel syndrome surgery 16y, diagnosis 18y)
DiseaseAssertion: Scheie syndrome
FamilyInfo: "female patient, brother, and male cousin born to consanguineous parents" Based on pedigree (Figure 4), the cousins are related through their mothers but the degree of consanguinity is not clear
CasePresentingHPOs: 0034337
CaseHPOFreeText: claw hands with flexion contractures; electroneurology showed bilateral signs of severe median nerve suffering.
CaseNotHPOs: HP:0000280; HP:0001510; HP:0000943
CaseNotHPOFreeText: no coarse face, growth failure, other joint involvement, evidence of dysostosis multiplex of other bones. Normal intelligence, ophthalmologic, hearing and echocardiography, brain MRI
CaseEnzymeAssay: 0.36 (umol/g/h)
CaseUrineGAGs:
CaseERT: Yes, after diagnosis at 18y
CaseBMT:
Variant1:c.521delA
Variant1ClinVarID:
Variant1CAID: CA2586973518
Variant2: 521delA
Variant2ClinVarID:
Variant2CAID: CA2586973518
AdditionalVariants:
ParentalGenotype:
PreviouslyPublished
Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report
PMID: 36052356
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson’s Disease
PMID: 36901867
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
infant B
Case#: Infant B
DiseaseAssertion: MPSI
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
CaseEnzymeAssay: Newborn screening, dried blood spot, modification of method published by Chamoles et al, IDUA activity <9.03 umol/L blood*20 on initial and repeat testing.
CaseUrineGAGs: Urinary GAG obtained as part of confirmatory testing but results are not presented.
CaseERT:
CaseBMT:
Variant1: c.344 G>T (D119Y), paternal origin
Variant1ClinVarID:
Variant1CAID:
Variant2: c.99 T>G (H33Q), maternal origin
Variant2ClinVarID:
Variant2CAID:
AdditionalVariants:
ParentalGenotype: c.344 G>T (paternal) / c.99 T>G (maternal)
PreviouslyPublished No
infant A
Case#: Infant A
DiseaseAssertion: MPSI
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
CaseEnzymeAssay: Newborn screening, dried blood spot, modification of method published by Chamoles et al, IDUA activity <9.03 umol/L blood*20 on initial and repeat testing.
CaseUrineGAGs: Urinary GAG obtained as part of confirmatory testing but results are not presented.
CaseERT: Don't know
CaseBMT: Don't know
Variant1: 303G > A (R105Q), paternal origin
Variant1ClinVarID: 2020010
Variant1CAID: CA2801866
Variant2: c.484 G>A (R162K), maternal origin
Variant2ClinVarID: 550594
Variant2CAID: CA355961605
AdditionalVariants:
ParentalGenotype: c.303 G>A (paternal) / c.484 G>A (maternal)
PreviouslyPublishedNo
MPS-I fibroblasts had a stop codon on both alleles of the iduronidase gene, causing a truncated protein p.W402X,
Case#:1 (it is unclear whether the fibroblasts carrying these variants were derived from a single or multiple patients).
DiseaseAssertion: MPS-I
FamilyInfo: not provided
CasePresentingHPO: not provided
CaseHPOFreeText: not provided
CaseNotHPO: not provided
**CaseNotHPOFreeText: not provided
CaseEnzymeAssay:fibroblast iduronidase activity reported but not clear if results are for a single or multiple patients
CaseUrineGAGs: not provided
CaseERT:" Don't know
CaseBMT:Dont' know
Variant1: p.W402X
Variant1ClinVarID: 11908
Variant2: p.W402X
Variant2ClinVarID: 11908
AdditionalVariants: none noted
ParentalGenotypes: not provided
PreviouslyPublished: not specified
Three samples were confirmed to have nucleotide changes consistent with MPS-I (Table II).
Case#:Table II, MPS-I, Enzyme activity=1.15
DiseaseAssertion: MPS1
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
CaseEnzymeAssay: 1.15 umol/hr/L blood (newborn blood spot)
CaseUrineGAGs:
CaseERT:
CaseBMT:
Variant1:c.246C>G (p.His82Gln)
Variant1ClinVarID: 92637
Variant1CAID: CA220506
Variant2: c.246C>G (p.His82Gln)
Variant2ClinVarID: 92637
Variant2CAID: CA220506
AdditionalVariants:
ParentalGenotype:
PreviouslyPublished
Three samples were confirmed to have nucleotide changes consistent with MPS-I (Table II).
Case#:Table II, MPS-1, Enzyme activity=1.05
DiseaseAssertion: MPS1
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
CaseEnzymeAssay: 1.05 umol/hr/L blood, newborn blood spot
CaseUrineGAGs:
CaseERT:
CaseBMT:
Variant1:c.208C>T (p.Gln70X)
Variant1ClinVarID: 11909
Variant1CAID: CA204563
Variant2: c.208C>T (p.Gln70X)
Variant2ClinVarID: 11909
Variant2CAID: CA204563
AdditionalVariants:
ParentalGenotype:
PreviouslyPublished
Three samples were confirmed to have nucleotide changes consistent with MPS-I (Table II).
Case#:Table II, MPS-1, Enzyme activity=1.06*
DiseaseAssertion: MPS1
FamilyInfo:
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
CaseEnzymeAssay: 1.06 umol/hr/L blood, newborn blood spot
CaseUrineGAGs:
CaseERT:
CaseBMT:
Variant1:c.355G>T (p.Asp119Tyr)
Variant1ClinVarID: 2432701
Variant1CAID: CA2801882
Variant2: c.250G>A (p.Gly84Ser)
Variant2ClinVarID: 726495
Variant2CAID: CA2801152
AdditionalVariants:
ParentalGenotype:
PreviouslyPublished
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing
PMID: 37091798
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
2-year-old male MPS1-H child
Case#: Male, 2-year old
DiseaseAssertion: MPS1-H
FamilyInfo: Not provided
CasePresentingHPOs: Not provided
CaseHPOFreeText: NA
CaseNotHPOs: Not provided
CaseNotHPOFreeText: NA
CaseEnzymeAssay: MPS1-H fibroblasts exhibited no activity of IDUAα (0.01 ± 0.02 nmol/mg/min); iPSC clones were devoid of IDUAα activity
CaseUrineGAGs: Not provided
CaseERT: Don't know
CaseBMT: Don't know
Variant1: NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
Variant1ClinVarID:557260
Variant1CAID:
Variant2: NM_000203.4(IDUA):c.1205 G>A (p.Trp402Ter)
Variant2ClinVarID:11908
Variant2CAID:
ParentalGenotype: Not provided
PreviouslyPublished: Authors reference [30]: PMID: 31678774 DOI: 10.1016/j.scr.2019.101604